Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113848_11113849delinsTG , CM000681.2:g.11113848_11113849delinsTG	GRCh38
NC_000019.9:g.11224524_11224525delinsTG , CM000681.1:g.11224524_11224525delinsTG	GRCh37
NC_000019.8:g.11085524_11085525delinsTG	NCBI36
NG_009060.1:g.29468_29469delinsTG , LRG_274:g.29468_29469delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1844+86_1844+87delinsTG	ENSP00000252444.6:n.1844+86_1844+87delinsTG
ENST00000559340.2:c.1586+86_1586+87delinsTG	ENSP00000453696.2:n.1586+86_1586+87delinsTG
ENST00000560467.2:c.1466+86_1466+87delinsTG	ENSP00000453513.2:n.1466+86_1466+87delinsTG
ENST00000558518.6:c.1586+86_1586+87delinsTG MANE Select	ENSP00000454071.1:n.1586+86_1586+87delinsTG
ENST00000252444.9:c.1840+86_1840+87delinsTG
ENST00000455727.6:c.1082+86_1082+87delinsTG	ENSP00000397829.2:n.1082+86_1082+87delinsTG
ENST00000535915.5:c.1463+86_1463+87delinsTG	ENSP00000440520.1:n.1463+86_1463+87delinsTG
ENST00000545707.5:c.1205+86_1205+87delinsTG	ENSP00000437639.1:n.1205+86_1205+87delinsTG
ENST00000557933.5:c.1586+86_1586+87delinsTG	ENSP00000453557.1:n.1586+86_1586+87delinsTG
ENST00000558013.5:c.1586+86_1586+87delinsTG	ENSP00000453346.1:n.1586+86_1586+87delinsTG
ENST00000558518.5:c.1586+86_1586+87delinsTG	ENSP00000454071.1:n.1586+86_1586+87delinsTG
ENST00000559340.1:c.307+86_307+87delinsTG
NM_000527.4:c.1586+86_1586+87delinsTG , LRG_274t1:c.1586+86_1586+87delinsTG	NP_000518.1:n.1586+86_1586+87delinsTG
NM_001195798.1:c.1586+86_1586+87delinsTG	NP_001182727.1:n.1586+86_1586+87delinsTG
NM_001195799.1:c.1463+86_1463+87delinsTG	NP_001182728.1:n.1463+86_1463+87delinsTG
NM_001195800.1:c.1082+86_1082+87delinsTG	NP_001182729.1:n.1082+86_1082+87delinsTG
NM_001195803.1:c.1205+86_1205+87delinsTG	NP_001182732.1:n.1205+86_1205+87delinsTG
XM_011528010.1:c.1586+86_1586+87delinsTG	XP_011526312.1:n.1586+86_1586+87delinsTG
XM_011528011.1:c.1205+86_1205+87delinsTG	XP_011526313.1:n.1205+86_1205+87delinsTG
XR_244074.2:n.1736+86_1736+87delinsTG
XM_011528010.2:c.1586+86_1586+87delinsTG	XP_011526312.1:n.1586+86_1586+87delinsTG
XR_001753685.2:n.1703+86_1703+87delinsTG
XR_001753686.2:n.1703+86_1703+87delinsTG
NM_000527.5:c.1586+86_1586+87delinsTG MANE Select	NP_000518.1:n.1586+86_1586+87delinsTG
NM_001195798.2:c.1586+86_1586+87delinsTG	NP_001182727.1:n.1586+86_1586+87delinsTG
NM_001195799.2:c.1463+86_1463+87delinsTG	NP_001182728.1:n.1463+86_1463+87delinsTG
NM_001195800.2:c.1082+86_1082+87delinsTG	NP_001182729.1:n.1082+86_1082+87delinsTG
NM_001195803.2:c.1205+86_1205+87delinsTG	NP_001182732.1:n.1205+86_1205+87delinsTG