Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105551_11105553delinsCTG , CM000681.2:g.11105551_11105553delinsCTG	GRCh38
NC_000019.9:g.11216227_11216229delinsCTG , CM000681.1:g.11216227_11216229delinsCTG	GRCh37
NC_000019.8:g.11077227_11077229delinsCTG	NCBI36
NG_009060.1:g.21171_21173delinsCTG , LRG_274:g.21171_21173delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.903_905delinsCTG	ENSP00000252444.6:p.Arg301=
ENST00000559340.2:c.645_647delinsCTG	ENSP00000453696.2:p.Arg215=
ENST00000560467.2:c.645_647delinsCTG	ENSP00000453513.2:p.Arg215=
ENST00000558518.6:c.645_647delinsCTG MANE Select	ENSP00000454071.1:p.Arg215=
ENST00000252444.9:c.899_901delinsCTG
ENST00000455727.6:c.314-1841_314-1839delinsCTG	ENSP00000397829.2:n.314-1841_314-1839delinsCTG
ENST00000535915.5:c.522_524delinsCTG	ENSP00000440520.1:p.Arg174=
ENST00000545707.5:c.314-1014_314-1012delinsCTG	ENSP00000437639.1:n.314-1014_314-1012delinsCTG
ENST00000557933.5:c.645_647delinsCTG	ENSP00000453557.1:p.Arg215=
ENST00000558013.5:c.645_647delinsCTG	ENSP00000453346.1:p.Arg215=
ENST00000558518.5:c.645_647delinsCTG	ENSP00000454071.1:p.Arg215=
ENST00000560467.1:c.245_247delinsCTG
NM_000527.4:c.645_647delinsCTG , LRG_274t1:c.645_647delinsCTG	NP_000518.1:p.Arg215=
NM_001195798.1:c.645_647delinsCTG	NP_001182727.1:p.Arg215=
NM_001195799.1:c.522_524delinsCTG	NP_001182728.1:p.Arg174=
NM_001195800.1:c.314-1841_314-1839delinsCTG	NP_001182729.1:n.314-1841_314-1839delinsCTG
NM_001195803.1:c.314-1014_314-1012delinsCTG	NP_001182732.1:n.314-1014_314-1012delinsCTG
XM_011528010.1:c.645_647delinsCTG	XP_011526312.1:p.Arg215=
XM_011528011.1:c.314-1014_314-1012delinsCTG	XP_011526313.1:n.314-1014_314-1012delinsCTG
XR_244074.2:n.795_797delinsCTG
XM_011528010.2:c.645_647delinsCTG	XP_011526312.1:p.Arg215=
XR_001753685.2:n.762_764delinsCTG
XR_001753686.2:n.762_764delinsCTG
NM_000527.5:c.645_647delinsCTG MANE Select	NP_000518.1:p.Arg215=
NM_001195798.2:c.645_647delinsCTG	NP_001182727.1:p.Arg215=
NM_001195799.2:c.522_524delinsCTG	NP_001182728.1:p.Arg174=
NM_001195800.2:c.314-1841_314-1839delinsCTG	NP_001182729.1:n.314-1841_314-1839delinsCTG
NM_001195803.2:c.314-1014_314-1012delinsCTG	NP_001182732.1:n.314-1014_314-1012delinsCTG