Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127736_206127737delinsCA , CM000664.2:g.206127736_206127737delinsCA	GRCh38
NC_000002.11:g.206992460_206992461delinsCA , CM000664.1:g.206992460_206992461delinsCA	GRCh37
NC_000002.10:g.206700705_206700706delinsCA	NCBI36
NG_009248.1:g.36727_36728delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1884+60_1884+61delinsTG MANE Select	ENSP00000233190.5:n.1884+60_1884+61delinsTG
ENST00000233190.10:c.1884+60_1884+61delinsTG	ENSP00000233190.5:n.1884+60_1884+61delinsTG
ENST00000423725.5:c.1713+60_1713+61delinsTG	ENSP00000397760.1:n.1713+60_1713+61delinsTG
ENST00000432169.5:c.1551+60_1551+61delinsTG	ENSP00000409689.1:n.1551+60_1551+61delinsTG
ENST00000440274.5:c.1776+60_1776+61delinsTG	ENSP00000409766.1:n.1776+60_1776+61delinsTG
ENST00000449699.5:c.1884+60_1884+61delinsTG	ENSP00000399912.1:n.1884+60_1884+61delinsTG
ENST00000455934.6:c.1926+60_1926+61delinsTG	ENSP00000392709.2:n.1926+60_1926+61delinsTG
ENST00000457011.5:c.1536+60_1536+61delinsTG	ENSP00000400976.1:n.1536+60_1536+61delinsTG
ENST00000498520.1:n.416_417delinsTG
NM_001199981.1:c.1776+60_1776+61delinsTG	NP_001186910.1:n.1776+60_1776+61delinsTG
NM_001199982.1:c.1551+60_1551+61delinsTG	NP_001186911.1:n.1551+60_1551+61delinsTG
NM_001199983.1:c.1713+60_1713+61delinsTG	NP_001186912.1:n.1713+60_1713+61delinsTG
NM_001199984.1:c.1926+60_1926+61delinsTG	NP_001186913.1:n.1926+60_1926+61delinsTG
NM_005006.6:c.1884+60_1884+61delinsTG	NP_004997.4:n.1884+60_1884+61delinsTG
XM_017004188.2:c.1125+60_1125+61delinsTG	XP_016859677.1:n.1125+60_1125+61delinsTG
NM_001199981.2:c.1776+60_1776+61delinsTG	NP_001186910.1:n.1776+60_1776+61delinsTG
NM_001199982.2:c.1551+60_1551+61delinsTG	NP_001186911.1:n.1551+60_1551+61delinsTG
NM_001199983.2:c.1713+60_1713+61delinsTG	NP_001186912.1:n.1713+60_1713+61delinsTG
NM_005006.7:c.1884+60_1884+61delinsTG MANE Select	NP_004997.4:n.1884+60_1884+61delinsTG
NM_001199984.2:c.1926+60_1926+61delinsTG	NP_001186913.1:n.1926+60_1926+61delinsTG