Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105560_11105563delinsTGGC , CM000681.2:g.11105560_11105563delinsTGGC	GRCh38
NC_000019.9:g.11216236_11216239delinsTGGC , CM000681.1:g.11216236_11216239delinsTGGC	GRCh37
NC_000019.8:g.11077236_11077239delinsTGGC	NCBI36
NG_009060.1:g.21180_21183delinsTGGC , LRG_274:g.21180_21183delinsTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.912_915delinsTGGC	ENSP00000252444.6:p.Gly304=
ENST00000559340.2:c.654_657delinsTGGC	ENSP00000453696.2:p.Gly218=
ENST00000560467.2:c.654_657delinsTGGC	ENSP00000453513.2:p.Gly218=
ENST00000558518.6:c.654_657delinsTGGC MANE Select	ENSP00000454071.1:p.Gly218=
ENST00000252444.9:c.908_911delinsTGGC
ENST00000455727.6:c.314-1832_314-1829delinsTGGC	ENSP00000397829.2:n.314-1832_314-1829delinsTGGC
ENST00000535915.5:c.531_534delinsTGGC	ENSP00000440520.1:p.Gly177=
ENST00000545707.5:c.314-1005_314-1002delinsTGGC	ENSP00000437639.1:n.314-1005_314-1002delinsTGGC
ENST00000557933.5:c.654_657delinsTGGC	ENSP00000453557.1:p.Gly218=
ENST00000558013.5:c.654_657delinsTGGC	ENSP00000453346.1:p.Gly218=
ENST00000558518.5:c.654_657delinsTGGC	ENSP00000454071.1:p.Gly218=
ENST00000560467.1:c.254_257delinsTGGC
NM_000527.4:c.654_657delinsTGGC , LRG_274t1:c.654_657delinsTGGC	NP_000518.1:p.Gly218=
NM_001195798.1:c.654_657delinsTGGC	NP_001182727.1:p.Gly218=
NM_001195799.1:c.531_534delinsTGGC	NP_001182728.1:p.Gly177=
NM_001195800.1:c.314-1832_314-1829delinsTGGC	NP_001182729.1:n.314-1832_314-1829delinsTGGC
NM_001195803.1:c.314-1005_314-1002delinsTGGC	NP_001182732.1:n.314-1005_314-1002delinsTGGC
XM_011528010.1:c.654_657delinsTGGC	XP_011526312.1:p.Gly218=
XM_011528011.1:c.314-1005_314-1002delinsTGGC	XP_011526313.1:n.314-1005_314-1002delinsTGGC
XR_244074.2:n.804_807delinsTGGC
XM_011528010.2:c.654_657delinsTGGC	XP_011526312.1:p.Gly218=
XR_001753685.2:n.771_774delinsTGGC
XR_001753686.2:n.771_774delinsTGGC
NM_000527.5:c.654_657delinsTGGC MANE Select	NP_000518.1:p.Gly218=
NM_001195798.2:c.654_657delinsTGGC	NP_001182727.1:p.Gly218=
NM_001195799.2:c.531_534delinsTGGC	NP_001182728.1:p.Gly177=
NM_001195800.2:c.314-1832_314-1829delinsTGGC	NP_001182729.1:n.314-1832_314-1829delinsTGGC
NM_001195803.2:c.314-1005_314-1002delinsTGGC	NP_001182732.1:n.314-1005_314-1002delinsTGGC