Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8604926_8604927delinsCA , CM000674.2:g.8604926_8604927delinsCA	GRCh38
NC_000012.11:g.8757522_8757523delinsCA , CM000674.1:g.8757522_8757523delinsCA	GRCh37
NC_000012.10:g.8648789_8648790delinsCA	NCBI36
NG_011588.1:g.12920_12921delinsTG , LRG_17:g.12920_12921delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000537228.6:c.428-35_428-34delinsTG	ENSP00000445691.1:n.428-35_428-34delinsTG
ENST00000543081.6:c.427+288_427+289delinsTG	ENSP00000439103.2:n.427+288_427+289delinsTG
ENST00000544516.6:c.157-590_157-589delinsTG	ENSP00000439538.2:n.157-590_157-589delinsTG
ENST00000545576.2:n.824_825delinsTG
ENST00000696246.1:c.413-35_413-34delinsTG	ENSP00000512504.1:n.413-35_413-34delinsTG
ENST00000696271.1:n.835_836delinsTG
ENST00000696272.1:c.413-5_413-4delinsTG	ENSP00000512515.1:n.413-5_413-4delinsTG
ENST00000696273.1:c.461-5_461-4delinsTG	ENSP00000512516.1:n.461-5_461-4delinsTG
ENST00000229335.11:c.428-5_428-4delinsTG MANE Select	ENSP00000229335.6:n.428-5_428-4delinsTG
ENST00000229335.10:c.428-5_428-4delinsTG	ENSP00000229335.6:n.428-5_428-4delinsTG
ENST00000537228.5:c.428-35_428-34delinsTG	ENSP00000445691.1:n.428-35_428-34delinsTG
ENST00000543081.5:c.423+288_423+289delinsTG
ENST00000544516.5:c.153-590_153-589delinsTG
ENST00000545512.1:c.424-5_424-4delinsTG
ENST00000545576.1:n.749_750delinsTG
NM_020661.2:c.428-5_428-4delinsTG , LRG_17t1:c.428-5_428-4delinsTG	NP_065712.1:n.428-5_428-4delinsTG
XM_011520772.1:c.428-35_428-34delinsTG	XP_011519074.1:n.428-35_428-34delinsTG
XM_011520773.1:c.427+288_427+289delinsTG	XP_011519075.1:n.427+288_427+289delinsTG
NM_001330343.1:c.428-35_428-34delinsTG	NP_001317272.1:n.428-35_428-34delinsTG
NM_020661.3:c.428-5_428-4delinsTG	NP_065712.1:n.428-5_428-4delinsTG
XM_011520773.2:c.427+288_427+289delinsTG	XP_011519075.1:n.427+288_427+289delinsTG
NM_020661.4:c.428-5_428-4delinsTG MANE Select	NP_065712.1:n.428-5_428-4delinsTG
NM_001330343.2:c.428-35_428-34delinsTG	NP_001317272.1:n.428-35_428-34delinsTG