Canonical Allele Identifier: CA2581100626
Gene: ANKS1B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.98796594C>A , CM000674.2:g.98796594C>A GRCh38
NC_000012.11:g.99190372C>A , CM000674.1:g.99190372C>A GRCh37
NC_000012.10:g.97714503C>A NCBI36
NG_029860.1:g.1193061G>T
NG_029860.2:g.1193061G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683438.2:c.3342+2340G>T MANE Select ENSP00000508105.1:n.3342+2340G>T
ENST00000333732.11:c.357+2340G>T ENSP00000331256.7:n.357+2340G>T
ENST00000341752.11:c.285+2340G>T ENSP00000345510.6:n.285+2340G>T
ENST00000546364.7:c.357+2340G>T ENSP00000473522.2:n.357+2340G>T
ENST00000546568.5:c.765+2340G>T ENSP00000448205.1:n.765+2340G>T
ENST00000546960.5:c.945+2340G>T ENSP00000447839.1:n.945+2340G>T
ENST00000547010.5:c.1815+2340G>T ENSP00000448512.1:n.1815+2340G>T
ENST00000547362.5:c.285+2340G>T ENSP00000473277.1:n.285+2340G>T
ENST00000547446.5:c.672+2340G>T ENSP00000450015.1:n.672+2340G>T
ENST00000547776.6:c.3267+2340G>T ENSP00000449629.2:n.3267+2340G>T
ENST00000549025.6:c.561+2340G>T ENSP00000447312.2:n.561+2340G>T
ENST00000549493.6:c.1017+2340G>T ENSP00000448203.2:n.1017+2340G>T
ENST00000549558.6:c.765+2340G>T ENSP00000448993.2:n.765+2340G>T
ENST00000550693.6:c.837+2340G>T ENSP00000447999.2:n.837+2340G>T
ENST00000550778.5:c.1082+2340G>T
NM_001204065.1:c.357+2340G>T NP_001190994.1:n.357+2340G>T
NM_001204066.1:c.561+2340G>T NP_001190995.1:n.561+2340G>T
NM_001204067.1:c.672+2340G>T NP_001190996.1:n.672+2340G>T
NM_001204068.1:c.945+2340G>T NP_001190997.1:n.945+2340G>T
NM_001204069.1:c.837+2340G>T NP_001190998.1:n.837+2340G>T
NM_001204070.1:c.765+2340G>T NP_001190999.1:n.765+2340G>T
NM_001204079.1:c.360+2340G>T NP_001191008.1:n.360+2340G>T
NM_001204080.1:c.285+2340G>T NP_001191009.1:n.285+2340G>T
NM_001204081.1:c.285+2340G>T NP_001191010.1:n.285+2340G>T
NM_020140.3:c.765+2340G>T NP_064525.1:n.765+2340G>T
NM_152788.4:c.3267+2340G>T NP_690001.3:n.3267+2340G>T
NM_181670.3:c.1017+2340G>T NP_858056.2:n.1017+2340G>T
XM_005269028.3:c.3267+2340G>T XP_005269085.1:n.3267+2340G>T
XM_005269029.3:c.3255+2340G>T XP_005269086.1:n.3255+2340G>T
XM_005269032.2:c.285+2340G>T XP_005269089.1:n.285+2340G>T
XM_006719504.2:c.3339+2340G>T XP_006719567.1:n.3339+2340G>T
XM_006719505.2:c.3342+2340G>T XP_006719568.1:n.3342+2340G>T
XM_006719506.2:c.3339+2340G>T XP_006719569.1:n.3339+2340G>T
XM_006719507.2:c.3342+2340G>T XP_006719570.1:n.3342+2340G>T
XM_006719508.2:c.3342+2340G>T XP_006719571.1:n.3342+2340G>T
XM_006719509.2:c.3267+2340G>T XP_006719572.1:n.3267+2340G>T
XM_006719510.2:c.3267+2340G>T XP_006719573.1:n.3267+2340G>T
XM_006719511.2:c.3159+2340G>T XP_006719574.1:n.3159+2340G>T
XM_006719512.2:c.3087+2340G>T XP_006719575.1:n.3087+2340G>T
XM_006719513.2:c.3087+2340G>T XP_006719576.1:n.3087+2340G>T
XM_006719514.2:c.3075+2340G>T XP_006719577.1:n.3075+2340G>T
XM_011538570.1:c.3342+2340G>T XP_011536872.1:n.3342+2340G>T
XM_011538571.1:c.3240+2340G>T XP_011536873.1:n.3240+2340G>T
XM_011538572.1:c.3201+2340G>T XP_011536874.1:n.3201+2340G>T
XR_944628.1:n.3832+2340G>T
XR_944629.1:n.3832+2340G>T
NM_001352185.1:c.3267+2340G>T NP_001339114.1:n.3267+2340G>T
NM_001352186.1:c.3342+2340G>T NP_001339115.1:n.3342+2340G>T
NM_001352187.1:c.3267+2340G>T NP_001339116.1:n.3267+2340G>T
NM_001352188.1:c.3339+2340G>T NP_001339117.1:n.3339+2340G>T
NM_001352189.1:c.924+2340G>T NP_001339118.1:n.924+2340G>T
NM_001352190.1:c.927+2340G>T NP_001339119.1:n.927+2340G>T
NM_001352191.1:c.594+2340G>T NP_001339120.1:n.594+2340G>T
NM_001352192.1:c.774+2340G>T NP_001339121.1:n.774+2340G>T
NM_001352193.1:c.774+2340G>T NP_001339122.1:n.774+2340G>T
NM_001352194.1:c.657+2340G>T NP_001339123.1:n.657+2340G>T
NM_001352195.1:c.1017+2340G>T NP_001339124.1:n.1017+2340G>T
NM_001352196.1:c.1017+2340G>T NP_001339125.1:n.1017+2340G>T
NM_001352197.1:c.945+2340G>T NP_001339126.1:n.945+2340G>T
NM_001352198.1:c.1020+2340G>T NP_001339127.1:n.1020+2340G>T
NM_001352199.1:c.765+2340G>T NP_001339128.1:n.765+2340G>T
NM_001352200.1:c.1020+2340G>T NP_001339129.1:n.1020+2340G>T
NM_001352201.1:c.657+2340G>T NP_001339130.1:n.657+2340G>T
NM_001352202.1:c.945+2340G>T NP_001339131.1:n.945+2340G>T
NM_001352203.1:c.732+2340G>T NP_001339132.1:n.732+2340G>T
NM_001352204.1:c.945+2340G>T NP_001339133.1:n.945+2340G>T
NM_001352205.1:c.1020+2340G>T NP_001339134.1:n.1020+2340G>T
NM_001352206.1:c.837+2340G>T NP_001339135.1:n.837+2340G>T
NM_001352207.1:c.285+2340G>T NP_001339136.1:n.285+2340G>T
NM_001352208.1:c.357+2340G>T NP_001339137.1:n.357+2340G>T
NM_001352209.1:c.285+2340G>T NP_001339138.1:n.285+2340G>T
NM_001352210.1:c.210+2340G>T NP_001339139.1:n.210+2340G>T
NM_001352211.1:c.60+2340G>T NP_001339140.1:n.60+2340G>T
NM_001352212.1:c.60+2340G>T NP_001339141.1:n.60+2340G>T
NM_001352213.1:c.60+2340G>T NP_001339142.1:n.60+2340G>T
NM_001352214.1:c.60+2340G>T NP_001339143.1:n.60+2340G>T
NM_001352216.1:c.60+2340G>T NP_001339145.1:n.60+2340G>T
NM_001352217.1:c.60+2340G>T NP_001339146.1:n.60+2340G>T
NM_001352218.1:c.60+2340G>T NP_001339147.1:n.60+2340G>T
NM_001352219.1:c.360+2340G>T NP_001339148.1:n.360+2340G>T
NM_001352220.1:c.60+2340G>T NP_001339149.1:n.60+2340G>T
NM_001352221.1:c.285+2340G>T NP_001339150.1:n.285+2340G>T
NM_001352222.1:c.357+2340G>T NP_001339151.1:n.357+2340G>T
NM_001352223.1:c.360+2340G>T NP_001339152.1:n.360+2340G>T
NM_001352224.1:c.60+2340G>T NP_001339153.1:n.60+2340G>T
NM_001352225.1:c.210+2340G>T NP_001339154.1:n.210+2340G>T
XM_005269029.5:c.3255+2340G>T XP_005269086.1:n.3255+2340G>T
XM_006719504.4:c.3339+2340G>T XP_006719567.1:n.3339+2340G>T
XM_006719505.4:c.3342+2340G>T XP_006719568.1:n.3342+2340G>T
XM_006719507.4:c.3342+2340G>T XP_006719570.1:n.3342+2340G>T
XM_006719508.4:c.3342+2340G>T XP_006719571.1:n.3342+2340G>T
XM_006719510.4:c.3267+2340G>T XP_006719573.1:n.3267+2340G>T
XM_006719512.4:c.3087+2340G>T XP_006719575.1:n.3087+2340G>T
XM_006719513.4:c.3087+2340G>T XP_006719576.1:n.3087+2340G>T
XM_006719514.4:c.3075+2340G>T XP_006719577.1:n.3075+2340G>T
XM_011538571.3:c.3240+2340G>T XP_011536873.1:n.3240+2340G>T
XM_017019652.2:c.3330+2340G>T XP_016875141.1:n.3330+2340G>T
XM_017019653.2:c.3339+2340G>T XP_016875142.1:n.3339+2340G>T
XM_017019654.2:c.3327+2340G>T XP_016875143.1:n.3327+2340G>T
XM_017019655.2:c.3339+2340G>T XP_016875144.1:n.3339+2340G>T
XM_017019656.2:c.3237+2340G>T XP_016875145.1:n.3237+2340G>T
XM_017019657.2:c.3165+2340G>T XP_016875146.1:n.3165+2340G>T
XM_017019658.2:c.3087+2340G>T XP_016875147.1:n.3087+2340G>T
XM_024449060.1:c.2082+2340G>T XP_024304828.1:n.2082+2340G>T
XM_024449061.1:c.2238+2340G>T XP_024304829.1:n.2238+2340G>T
XM_024449062.1:c.2082+2340G>T XP_024304830.1:n.2082+2340G>T
XM_024449063.1:c.2007+2340G>T XP_024304831.1:n.2007+2340G>T
XM_024449064.1:c.1233+2340G>T XP_024304832.1:n.1233+2340G>T
XM_024449065.1:c.927+2340G>T XP_024304833.1:n.927+2340G>T
XM_024449066.1:c.918+2340G>T XP_024304834.1:n.918+2340G>T
XM_024449067.1:c.915+2340G>T XP_024304835.1:n.915+2340G>T
XM_024449068.1:c.918+2340G>T XP_024304836.1:n.918+2340G>T
XM_024449069.1:c.849+2340G>T XP_024304837.1:n.849+2340G>T
XM_024449070.1:c.849+2340G>T XP_024304838.1:n.849+2340G>T
XR_001748815.2:n.3854+2340G>T
NM_001204065.2:c.357+2340G>T NP_001190994.1:n.357+2340G>T
NM_001204066.2:c.561+2340G>T NP_001190995.1:n.561+2340G>T
NM_001204068.2:c.945+2340G>T NP_001190997.1:n.945+2340G>T
NM_001204069.2:c.837+2340G>T NP_001190998.1:n.837+2340G>T
NM_001204070.2:c.765+2340G>T NP_001190999.1:n.765+2340G>T
NM_001204079.2:c.360+2340G>T NP_001191008.1:n.360+2340G>T
NM_001204080.2:c.285+2340G>T NP_001191009.1:n.285+2340G>T
NM_001352191.2:c.594+2340G>T NP_001339120.1:n.594+2340G>T
NM_001352192.2:c.774+2340G>T NP_001339121.1:n.774+2340G>T
NM_001352193.2:c.774+2340G>T NP_001339122.1:n.774+2340G>T
NM_001352194.2:c.657+2340G>T NP_001339123.1:n.657+2340G>T
NM_001352195.2:c.1017+2340G>T NP_001339124.1:n.1017+2340G>T
NM_001352198.2:c.1020+2340G>T NP_001339127.1:n.1020+2340G>T
NM_001352199.2:c.765+2340G>T NP_001339128.1:n.765+2340G>T
NM_001352200.2:c.1020+2340G>T NP_001339129.1:n.1020+2340G>T
NM_001352201.2:c.657+2340G>T NP_001339130.1:n.657+2340G>T
NM_001352202.2:c.945+2340G>T NP_001339131.1:n.945+2340G>T
NM_001352203.2:c.732+2340G>T NP_001339132.1:n.732+2340G>T
NM_001352204.2:c.945+2340G>T NP_001339133.1:n.945+2340G>T
NM_001352205.2:c.1020+2340G>T NP_001339134.1:n.1020+2340G>T
NM_001352206.2:c.837+2340G>T NP_001339135.1:n.837+2340G>T
NM_001352207.2:c.285+2340G>T NP_001339136.1:n.285+2340G>T
NM_001352208.2:c.357+2340G>T NP_001339137.1:n.357+2340G>T
NM_001352209.2:c.285+2340G>T NP_001339138.1:n.285+2340G>T
NM_001352210.2:c.210+2340G>T NP_001339139.1:n.210+2340G>T
NM_001352211.2:c.60+2340G>T NP_001339140.1:n.60+2340G>T
NM_001352212.2:c.60+2340G>T NP_001339141.1:n.60+2340G>T
NM_001352217.2:c.60+2340G>T NP_001339146.1:n.60+2340G>T
NM_001352218.2:c.60+2340G>T NP_001339147.1:n.60+2340G>T
NM_001352219.2:c.360+2340G>T NP_001339148.1:n.360+2340G>T
NM_001352220.2:c.60+2340G>T NP_001339149.1:n.60+2340G>T
NM_001352221.2:c.285+2340G>T NP_001339150.1:n.285+2340G>T
NM_001352222.2:c.357+2340G>T NP_001339151.1:n.357+2340G>T
NM_001352224.2:c.60+2340G>T NP_001339153.1:n.60+2340G>T
NM_001352225.2:c.210+2340G>T NP_001339154.1:n.210+2340G>T
NM_181670.4:c.1017+2340G>T NP_858056.2:n.1017+2340G>T
NM_001204067.2:c.672+2340G>T NP_001190996.1:n.672+2340G>T
NM_001204081.2:c.285+2340G>T NP_001191010.1:n.285+2340G>T
NM_001352186.2:c.3342+2340G>T MANE Select NP_001339115.1:n.3342+2340G>T
NM_001352196.2:c.1017+2340G>T NP_001339125.1:n.1017+2340G>T
NM_001352197.2:c.945+2340G>T NP_001339126.1:n.945+2340G>T
NM_001352213.2:c.60+2340G>T NP_001339142.1:n.60+2340G>T
NM_001352214.2:c.60+2340G>T NP_001339143.1:n.60+2340G>T
NM_001352216.2:c.60+2340G>T NP_001339145.1:n.60+2340G>T
NM_001352223.2:c.360+2340G>T NP_001339152.1:n.360+2340G>T
NM_020140.4:c.765+2340G>T NP_064525.1:n.765+2340G>T
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