Canonical Allele Identifier: CA2497344909
Gene: CAPS2 HGNC NCBI

Linked Data

dbSNP Id: rs2040617390
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.75324828_75324832del , CM000674.2:g.75324828_75324832del GRCh38
NC_000012.11:g.75718608_75718612del , CM000674.1:g.75718608_75718612del GRCh37
NC_000012.10:g.74004875_74004879del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000699294.1:c.131+408_131+412del MANE Select ENSP00000514274.1:n.131+408_131+412del
ENST00000393284.8:c.131+408_131+412del ENSP00000376963.4:n.131+408_131+412del
ENST00000409445.8:c.131+408_131+412del ENSP00000386959.4:n.131+408_131+412del
ENST00000409799.6:c.131+408_131+412del ENSP00000386977.2:n.131+408_131+412del
ENST00000436898.6:c.131+408_131+412del ENSP00000411797.2:n.131+408_131+412del
ENST00000328705.7:c.*421+408_*421+412del ENSP00000331007.3:n.*421+408_*421+412del
ENST00000336815.10:c.34-3255_34-3251del ENSP00000338474.6:n.34-3255_34-3251del
ENST00000393284.7:c.-509+408_-509+412del ENSP00000376963.3:n.-509+408_-509+412del
ENST00000409445.7:c.188+408_188+412del ENSP00000386959.3:n.188+408_188+412del
ENST00000409799.5:c.152+408_152+412del ENSP00000386977.1:n.152+408_152+412del
ENST00000436898.5:c.30+408_30+412del ENSP00000411797.1:n.30+408_30+412del
ENST00000486196.1:n.476-3255_476-3251del
ENST00000493070.1:n.350+408_350+412del
ENST00000551829.5:c.-394-1609_-394-1605del ENSP00000447737.1:n.-394-1609_-394-1605del
ENST00000552497.5:c.34-3255_34-3251del ENSP00000449797.1:n.34-3255_34-3251del
NM_001286547.1:c.152+408_152+412del NP_001273476.1:n.152+408_152+412del
NM_001286548.1:c.-423+408_-423+412del NP_001273477.1:n.-423+408_-423+412del
NM_001286549.1:c.-645-3255_-645-3251del NP_001273478.1:n.-645-3255_-645-3251del
NM_032606.3:c.188+408_188+412del NP_115995.2:n.188+408_188+412del
XM_005269192.1:c.30+408_30+412del XP_005269249.1:n.30+408_30+412del
XM_006719648.2:c.188+408_188+412del XP_006719711.2:n.188+408_188+412del
XM_006719649.2:c.188+408_188+412del XP_006719712.2:n.188+408_188+412del
XM_011538876.1:c.152+408_152+412del XP_011537178.1:n.152+408_152+412del
XM_011538877.1:c.152+408_152+412del XP_011537179.1:n.152+408_152+412del
XM_011538878.1:c.152+408_152+412del XP_011537180.1:n.152+408_152+412del
XM_011538879.1:c.152+408_152+412del XP_011537181.1:n.152+408_152+412del
XM_011538880.1:c.152+408_152+412del XP_011537182.1:n.152+408_152+412del
XM_011538881.1:c.152+408_152+412del XP_011537183.1:n.152+408_152+412del
XM_011538882.1:c.152+408_152+412del XP_011537184.1:n.152+408_152+412del
XM_011538883.1:c.152+408_152+412del XP_011537185.1:n.152+408_152+412del
XM_011538884.1:c.152+408_152+412del XP_011537186.1:n.152+408_152+412del
XM_011538885.1:c.188+408_188+412del XP_011537187.1:n.188+408_188+412del
XM_011538886.1:c.188+408_188+412del XP_011537188.1:n.188+408_188+412del
XM_011538887.1:c.188+408_188+412del XP_011537189.1:n.188+408_188+412del
XM_011538888.1:c.34-3255_34-3251del XP_011537190.1:n.34-3255_34-3251del
XM_011538889.1:c.152+408_152+412del XP_011537191.1:n.152+408_152+412del
XM_011538890.1:c.188+408_188+412del XP_011537192.1:n.188+408_188+412del
XM_011538891.1:c.152+408_152+412del XP_011537193.1:n.152+408_152+412del
XM_011538892.1:c.-394-1609_-394-1605del XP_011537194.1:n.-394-1609_-394-1605del
XM_011538893.1:c.188+408_188+412del XP_011537195.1:n.188+408_188+412del
XR_944789.1:n.385+408_385+412del
NM_001286547.2:c.152+408_152+412del NP_001273476.1:n.152+408_152+412del
NM_001286548.2:c.-423+408_-423+412del NP_001273477.1:n.-423+408_-423+412del
NM_001355023.1:c.152+408_152+412del NP_001341952.1:n.152+408_152+412del
NM_001355024.1:c.152+408_152+412del NP_001341953.1:n.152+408_152+412del
NM_001355025.1:c.30+408_30+412del NP_001341954.1:n.30+408_30+412del
NM_001355026.1:c.34-3255_34-3251del NP_001341955.1:n.34-3255_34-3251del
NM_001355027.1:c.30+408_30+412del NP_001341956.1:n.30+408_30+412del
NM_001355030.1:c.-376-3255_-376-3251del NP_001341959.1:n.-376-3255_-376-3251del
NM_001355031.1:c.-394-1609_-394-1605del NP_001341960.1:n.-394-1609_-394-1605del
NM_001355032.1:c.-536-1609_-536-1605del NP_001341961.1:n.-536-1609_-536-1605del
NM_001355033.1:c.-348-3255_-348-3251del NP_001341962.1:n.-348-3255_-348-3251del
NM_032606.4:c.188+408_188+412del NP_115995.2:n.188+408_188+412del
NR_149155.1:n.101-3255_101-3251del
NR_149156.1:n.101-3255_101-3251del
NR_149157.1:n.505-3255_505-3251del
NR_149158.1:n.101-3255_101-3251del
NR_149159.1:n.505-3255_505-3251del
NR_149160.1:n.565-3255_565-3251del
NR_149161.1:n.101-1609_101-1605del
XM_011538886.2:c.188+408_188+412del XP_011537188.1:n.188+408_188+412del
XM_011538887.2:c.188+408_188+412del XP_011537189.1:n.188+408_188+412del
XM_011538889.3:c.152+408_152+412del XP_011537191.1:n.152+408_152+412del
XM_017020036.1:c.-634+408_-634+412del XP_016875525.1:n.-634+408_-634+412del
XM_024449226.1:c.30+408_30+412del XP_024304994.1:n.30+408_30+412del
NM_001286547.3:c.152+408_152+412del NP_001273476.1:n.152+408_152+412del
NM_001286548.3:c.-423+408_-423+412del NP_001273477.1:n.-423+408_-423+412del
NM_001355023.2:c.152+408_152+412del NP_001341952.1:n.152+408_152+412del
NM_001355024.2:c.152+408_152+412del NP_001341953.1:n.152+408_152+412del
NM_001355025.2:c.30+408_30+412del NP_001341954.1:n.30+408_30+412del
NM_001355026.2:c.34-3255_34-3251del NP_001341955.1:n.34-3255_34-3251del
NM_001355027.2:c.30+408_30+412del NP_001341956.1:n.30+408_30+412del
NM_001355030.2:c.-376-3255_-376-3251del NP_001341959.1:n.-376-3255_-376-3251del
NM_001355031.2:c.-394-1609_-394-1605del NP_001341960.1:n.-394-1609_-394-1605del
NM_001355032.2:c.-536-1609_-536-1605del NP_001341961.1:n.-536-1609_-536-1605del
NM_001355033.2:c.-348-3255_-348-3251del NP_001341962.1:n.-348-3255_-348-3251del
NM_032606.5:c.188+408_188+412del NP_115995.2:n.188+408_188+412del
NR_149155.2:n.65-3255_65-3251del
NR_149156.2:n.65-3255_65-3251del
NR_149157.2:n.469-3255_469-3251del
NR_149158.2:n.65-3255_65-3251del
NR_149159.2:n.469-3255_469-3251del
NR_149160.2:n.529-3255_529-3251del
NR_149161.2:n.65-1609_65-1605del
NM_001355023.4:c.131+408_131+412del NP_001341952.2:n.131+408_131+412del
NM_001355024.4:c.131+408_131+412del MANE Select NP_001341953.2:n.131+408_131+412del
Search 100 bp 5'
Search 100 bp 3'