Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105584_11105587delinsTGAC , CM000681.2:g.11105584_11105587delinsTGAC	GRCh38
NC_000019.9:g.11216260_11216263delinsTGAC , CM000681.1:g.11216260_11216263delinsTGAC	GRCh37
NC_000019.8:g.11077260_11077263delinsTGAC	NCBI36
NG_009060.1:g.21204_21207delinsTGAC , LRG_274:g.21204_21207delinsTGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.936_939delinsTGAC	ENSP00000252444.6:p.Ser312=
ENST00000559340.2:c.678_681delinsTGAC	ENSP00000453696.2:p.Ser226=
ENST00000560467.2:c.678_681delinsTGAC	ENSP00000453513.2:p.Ser226=
ENST00000558518.6:c.678_681delinsTGAC MANE Select	ENSP00000454071.1:p.Ser226=
ENST00000252444.9:c.932_935delinsTGAC
ENST00000455727.6:c.314-1808_314-1805delinsTGAC	ENSP00000397829.2:n.314-1808_314-1805delinsTGAC
ENST00000535915.5:c.555_558delinsTGAC	ENSP00000440520.1:p.Ser185=
ENST00000545707.5:c.314-981_314-978delinsTGAC	ENSP00000437639.1:n.314-981_314-978delinsTGAC
ENST00000557933.5:c.678_681delinsTGAC	ENSP00000453557.1:p.Ser226=
ENST00000558013.5:c.678_681delinsTGAC	ENSP00000453346.1:p.Ser226=
ENST00000558518.5:c.678_681delinsTGAC	ENSP00000454071.1:p.Ser226=
ENST00000560467.1:c.278_281delinsTGAC
NM_000527.4:c.678_681delinsTGAC , LRG_274t1:c.678_681delinsTGAC	NP_000518.1:p.Ser226=
NM_001195798.1:c.678_681delinsTGAC	NP_001182727.1:p.Ser226=
NM_001195799.1:c.555_558delinsTGAC	NP_001182728.1:p.Ser185=
NM_001195800.1:c.314-1808_314-1805delinsTGAC	NP_001182729.1:n.314-1808_314-1805delinsTGAC
NM_001195803.1:c.314-981_314-978delinsTGAC	NP_001182732.1:n.314-981_314-978delinsTGAC
XM_011528010.1:c.678_681delinsTGAC	XP_011526312.1:p.Ser226=
XM_011528011.1:c.314-981_314-978delinsTGAC	XP_011526313.1:n.314-981_314-978delinsTGAC
XR_244074.2:n.828_831delinsTGAC
XM_011528010.2:c.678_681delinsTGAC	XP_011526312.1:p.Ser226=
XR_001753685.2:n.795_798delinsTGAC
XR_001753686.2:n.795_798delinsTGAC
NM_000527.5:c.678_681delinsTGAC MANE Select	NP_000518.1:p.Ser226=
NM_001195798.2:c.678_681delinsTGAC	NP_001182727.1:p.Ser226=
NM_001195799.2:c.555_558delinsTGAC	NP_001182728.1:p.Ser185=
NM_001195800.2:c.314-1808_314-1805delinsTGAC	NP_001182729.1:n.314-1808_314-1805delinsTGAC
NM_001195803.2:c.314-981_314-978delinsTGAC	NP_001182732.1:n.314-981_314-978delinsTGAC