Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480779_47480780delinsGC , CM000664.2:g.47480779_47480780delinsGC	GRCh38
NC_000002.11:g.47707918_47707919delinsGC , CM000664.1:g.47707918_47707919delinsGC	GRCh37
NC_000002.10:g.47561422_47561423delinsGC	NCBI36
NG_007110.2:g.82656_82657delinsGC , LRG_218:g.82656_82657delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2542_2543delinsGC	ENSP00000495641.2:p.Ala848=
ENST00000233146.7:c.2542_2543delinsGC MANE Select	ENSP00000233146.2:p.Ala848=
ENST00000543555.6:c.2344_2345delinsGC	ENSP00000442697.1:p.Ala782=
ENST00000644092.1:c.842_843delinsGC	ENSP00000496351.1:n.842_843delinsGC
ENST00000644900.1:c.395_396delinsGC
ENST00000645339.1:c.2542_2543delinsGC	ENSP00000496441.1:p.Ala848=
ENST00000645506.1:c.2542_2543delinsGC	ENSP00000495455.1:p.Ala848=
ENST00000646415.1:c.2542_2543delinsGC	ENSP00000495543.1:p.Ala848=
ENST00000233146.6:c.2542_2543delinsGC	ENSP00000233146.2:p.Ala848=
ENST00000406134.5:c.2542_2543delinsGC	ENSP00000384199.1:p.Ala848=
ENST00000543555.5:c.2344_2345delinsGC	ENSP00000442697.1:p.Ala782=
ENST00000610696.4:c.938_939delinsGC	ENSP00000483159.1:n.938_939delinsGC
ENST00000613514.4:c.1082_1083delinsGC	ENSP00000484137.1:n.1082_1083delinsGC
ENST00000617333.3:c.1308_1309delinsGC	ENSP00000482468.1:n.1308_1309delinsGC
ENST00000617938.4:c.1514_1515delinsGC	ENSP00000481158.1:n.1514_1515delinsGC
ENST00000621359.2:c.108_109delinsGC	ENSP00000481416.1:n.108_109delinsGC
NM_000251.2:c.2542_2543delinsGC , LRG_218t1:c.2542_2543delinsGC	NP_000242.1:p.Ala848=
NM_001258281.1:c.2344_2345delinsGC	NP_001245210.1:p.Ala782=
XM_005264332.2:c.2542_2543delinsGC	XP_005264389.2:p.Ala848=
XM_011532867.1:c.2542_2543delinsGC	XP_011531169.1:p.Ala848=
XR_939685.1:n.2614_2615delinsGC
XM_005264332.4:c.2542_2543delinsGC	XP_005264389.2:p.Ala848=
XM_011532867.2:c.2542_2543delinsGC	XP_011531169.1:p.Ala848=
XR_001738747.2:n.2604_2605delinsGC
XR_939685.2:n.2604_2605delinsGC
NM_000251.3:c.2542_2543delinsGC MANE Select	NP_000242.1:p.Ala848=