Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127741_206127742delinsTA , CM000664.2:g.206127741_206127742delinsTA	GRCh38
NC_000002.11:g.206992465_206992466delinsTA , CM000664.1:g.206992465_206992466delinsTA	GRCh37
NC_000002.10:g.206700710_206700711delinsTA	NCBI36
NG_009248.1:g.36722_36723delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1884+55_1884+56delinsTA MANE Select	ENSP00000233190.5:n.1884+55_1884+56delinsTA
ENST00000233190.10:c.1884+55_1884+56delinsTA	ENSP00000233190.5:n.1884+55_1884+56delinsTA
ENST00000423725.5:c.1713+55_1713+56delinsTA	ENSP00000397760.1:n.1713+55_1713+56delinsTA
ENST00000432169.5:c.1551+55_1551+56delinsTA	ENSP00000409689.1:n.1551+55_1551+56delinsTA
ENST00000440274.5:c.1776+55_1776+56delinsTA	ENSP00000409766.1:n.1776+55_1776+56delinsTA
ENST00000449699.5:c.1884+55_1884+56delinsTA	ENSP00000399912.1:n.1884+55_1884+56delinsTA
ENST00000455934.6:c.1926+55_1926+56delinsTA	ENSP00000392709.2:n.1926+55_1926+56delinsTA
ENST00000457011.5:c.1536+55_1536+56delinsTA	ENSP00000400976.1:n.1536+55_1536+56delinsTA
ENST00000498520.1:n.411_412delinsTA
NM_001199981.1:c.1776+55_1776+56delinsTA	NP_001186910.1:n.1776+55_1776+56delinsTA
NM_001199982.1:c.1551+55_1551+56delinsTA	NP_001186911.1:n.1551+55_1551+56delinsTA
NM_001199983.1:c.1713+55_1713+56delinsTA	NP_001186912.1:n.1713+55_1713+56delinsTA
NM_001199984.1:c.1926+55_1926+56delinsTA	NP_001186913.1:n.1926+55_1926+56delinsTA
NM_005006.6:c.1884+55_1884+56delinsTA	NP_004997.4:n.1884+55_1884+56delinsTA
XM_017004188.2:c.1125+55_1125+56delinsTA	XP_016859677.1:n.1125+55_1125+56delinsTA
NM_001199981.2:c.1776+55_1776+56delinsTA	NP_001186910.1:n.1776+55_1776+56delinsTA
NM_001199982.2:c.1551+55_1551+56delinsTA	NP_001186911.1:n.1551+55_1551+56delinsTA
NM_001199983.2:c.1713+55_1713+56delinsTA	NP_001186912.1:n.1713+55_1713+56delinsTA
NM_005006.7:c.1884+55_1884+56delinsTA MANE Select	NP_004997.4:n.1884+55_1884+56delinsTA
NM_001199984.2:c.1926+55_1926+56delinsTA	NP_001186913.1:n.1926+55_1926+56delinsTA