Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113665_11113666delinsAC , CM000681.2:g.11113665_11113666delinsAC	GRCh38
NC_000019.9:g.11224341_11224342delinsAC , CM000681.1:g.11224341_11224342delinsAC	GRCh37
NC_000019.8:g.11085341_11085342delinsAC	NCBI36
NG_009060.1:g.29285_29286delinsAC , LRG_274:g.29285_29286delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1747_1748delinsAC	ENSP00000252444.6:p.Thr583=
ENST00000559340.2:c.1489_1490delinsAC	ENSP00000453696.2:p.Thr497=
ENST00000560467.2:c.1369_1370delinsAC	ENSP00000453513.2:p.Thr457=
ENST00000558518.6:c.1489_1490delinsAC MANE Select	ENSP00000454071.1:p.Thr497=
ENST00000252444.9:c.1743_1744delinsAC
ENST00000455727.6:c.985_986delinsAC	ENSP00000397829.2:p.Thr329=
ENST00000535915.5:c.1366_1367delinsAC	ENSP00000440520.1:p.Thr456=
ENST00000545707.5:c.1108_1109delinsAC	ENSP00000437639.1:p.Thr370=
ENST00000557933.5:c.1489_1490delinsAC	ENSP00000453557.1:p.Thr497=
ENST00000558013.5:c.1489_1490delinsAC	ENSP00000453346.1:p.Thr497=
ENST00000558518.5:c.1489_1490delinsAC	ENSP00000454071.1:p.Thr497=
ENST00000559340.1:c.210_211delinsAC
NM_000527.4:c.1489_1490delinsAC , LRG_274t1:c.1489_1490delinsAC	NP_000518.1:p.Thr497=
NM_001195798.1:c.1489_1490delinsAC	NP_001182727.1:p.Thr497=
NM_001195799.1:c.1366_1367delinsAC	NP_001182728.1:p.Thr456=
NM_001195800.1:c.985_986delinsAC	NP_001182729.1:p.Thr329=
NM_001195803.1:c.1108_1109delinsAC	NP_001182732.1:p.Thr370=
XM_011528010.1:c.1489_1490delinsAC	XP_011526312.1:p.Thr497=
XM_011528011.1:c.1108_1109delinsAC	XP_011526313.1:p.Thr370=
XR_244074.2:n.1639_1640delinsAC
XM_011528010.2:c.1489_1490delinsAC	XP_011526312.1:p.Thr497=
XR_001753685.2:n.1606_1607delinsAC
XR_001753686.2:n.1606_1607delinsAC
NM_000527.5:c.1489_1490delinsAC MANE Select	NP_000518.1:p.Thr497=
NM_001195798.2:c.1489_1490delinsAC	NP_001182727.1:p.Thr497=
NM_001195799.2:c.1366_1367delinsAC	NP_001182728.1:p.Thr456=
NM_001195800.2:c.985_986delinsAC	NP_001182729.1:p.Thr329=
NM_001195803.2:c.1108_1109delinsAC	NP_001182732.1:p.Thr370=