Canonical Allele Identifier: CA1603608460

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177403662_177403663delinsCA , CM000667.2:g.177403662_177403663delinsCA GRCh38
NC_000005.9:g.176830663_176830664delinsCA , CM000667.1:g.176830663_176830664delinsCA GRCh37
NC_000005.8:g.176763269_176763270delinsCA NCBI36
NG_007568.1:g.10914_10915delinsTG , LRG_145:g.10914_10915delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*917-46_*917-45delinsTG (F12) ENSP00000512476.1:n.*917-46_*917-45delinsTG
ENST00000696193.1:c.*1638-46_*1638-45delinsTG (F12) ENSP00000512477.1:n.*1638-46_*1638-45delinsTG
ENST00000696194.1:c.*841-46_*841-45delinsTG (F12) ENSP00000512478.1:n.*841-46_*841-45delinsTG
ENST00000696195.1:n.4054-46_4054-45delinsTG (F12)
ENST00000696200.1:n.1549_1550delinsTG (F12)
ENST00000696201.1:c.1251-46_1251-45delinsTG (F12) ENSP00000512482.1:n.1251-46_1251-45delinsTG
ENST00000253496.4:c.1251-46_1251-45delinsTG (F12) MANE Select ENSP00000253496.3:n.1251-46_1251-45delinsTG
ENST00000253496.3:c.1251-46_1251-45delinsTG (F12) ENSP00000253496.3:n.1251-46_1251-45delinsTG
ENST00000502598.5:c.-45+136_-45+137delinsCA (GRK6) ENSP00000422873.1:n.-45+136_-45+137delinsCA
ENST00000502854.5:n.705_706delinsTG (F12)
ENST00000503736.1:n.623-46_623-45delinsTG (F12)
ENST00000504406.5:n.88_89delinsTG (F12)
ENST00000510358.5:n.810_811delinsTG (F12)
NM_000505.3:c.1251-46_1251-45delinsTG , LRG_145t1:c.1251-46_1251-45delinsTG (F12) NP_000496.2:n.1251-46_1251-45delinsTG
XM_011534461.1:c.1251-46_1251-45delinsTG (F12) XP_011532763.1:n.1251-46_1251-45delinsTG
XM_011534462.1:c.915-46_915-45delinsTG (F12) XP_011532764.1:n.915-46_915-45delinsTG
XM_011534462.2:c.915-46_915-45delinsTG (F12) XP_011532764.1:n.915-46_915-45delinsTG
XM_017009773.2:c.1416+6588_1416+6589delinsCA (SLC34A1) XP_016865262.1:n.1416+6588_1416+6589delinsCA
NM_000505.4:c.1251-46_1251-45delinsTG (F12) MANE Select NP_000496.2:n.1251-46_1251-45delinsTG