Canonical Allele Identifier: CA2532447126

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131581285_131581286insACG , CM000668.2:g.131581285_131581286insACG GRCh38
NC_000006.11:g.131902425_131902426insACG , CM000668.1:g.131902425_131902426insACG GRCh37
NC_000006.10:g.131944118_131944119insACG NCBI36
NG_007086.2:g.13061_13062insACG
NG_031860.1:g.51938_51939insCGT
NG_031860.2:g.51938_51939insCGT

Transcript Alleles

HGVS Amino-acid change
ENST00000368087.8:c.372_373insACG (ARG1) MANE Select ENSP00000357066.3:p.Asp124_Ala125insThr
ENST00000640973.1:c.372_373insACG (ARG1) ENSP00000492623.1:p.Asp124_Ala125insThr
ENST00000672233.1:c.318_319insACG (ARG1) ENSP00000499826.1:p.Asp106_Ala107insThr
ENST00000673234.1:c.*259_*260insACG (ARG1) ENSP00000499885.1:n.*259_*260insACG
ENST00000673427.1:c.306-1775_306-1774insACG (ARG1) ENSP00000500160.1:n.306-1775_306-1774insA...
ENST00000275196.5:n.356_357insACG (ARG1)
ENST00000354577.8:c.4095+6423_4095+6424insCGT (MED23) ENSP00000346588.4:n.4095+6423_4095+6424in...
ENST00000356962.2:c.396_397insACG (ARG1) ENSP00000349446.2:p.Asp132_Ala133insThr
ENST00000368087.7:c.372_373insACG (ARG1) ENSP00000357066.3:p.Asp124_Ala125insThr
NM_000045.3:c.372_373insACG (ARG1) NP_000036.2:p.Asp124_Ala125insThr
NM_001244438.1:c.396_397insACG (ARG1) NP_001231367.1:p.Asp132_Ala133insThr
NM_001270521.1:c.4077+6423_4077+6424insCGT (MED23) NP_001257450.1:n.4077+6423_4077+6424insCG...
NM_015979.3:c.4095+6423_4095+6424insCGT (MED23) NP_057063.2:n.4095+6423_4095+6424insCGT
XM_011535801.1:c.306-1775_306-1774insACG (ARG1) XP_011534103.1:n.306-1775_306-1774insACG
XM_011535801.2:c.306-1775_306-1774insACG (ARG1) XP_011534103.1:n.306-1775_306-1774insACG
NM_000045.4:c.372_373insACG (ARG1) MANE Select NP_000036.2:p.Asp124_Ala125insThr
NM_001244438.2:c.396_397insACG (ARG1) NP_001231367.1:p.Asp132_Ala133insThr
NM_001270521.2:c.4077+6423_4077+6424insCGT (MED23) NP_001257450.1:n.4077+6423_4077+6424insCG...
NM_001369020.1:c.306-1775_306-1774insACG (ARG1) NP_001355949.1:n.306-1775_306-1774insACG
NM_015979.4:c.4095+6423_4095+6424insCGT (MED23) NP_057063.2:n.4095+6423_4095+6424insCGT
NR_160934.1:n.356_357insACG (ARG1)