Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480710_47480711delinsAG , CM000664.2:g.47480710_47480711delinsAG	GRCh38
NC_000002.11:g.47707849_47707850delinsAG , CM000664.1:g.47707849_47707850delinsAG	GRCh37
NC_000002.10:g.47561353_47561354delinsAG	NCBI36
NG_007110.2:g.82587_82588delinsAG , LRG_218:g.82587_82588delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2473_2474delinsAG	ENSP00000495641.2:p.Ser825=
ENST00000233146.7:c.2473_2474delinsAG MANE Select	ENSP00000233146.2:p.Ser825=
ENST00000543555.6:c.2275_2276delinsAG	ENSP00000442697.1:p.Ser759=
ENST00000644092.1:c.773_774delinsAG	ENSP00000496351.1:n.773_774delinsAG
ENST00000644900.1:c.326_327delinsAG
ENST00000645339.1:c.2473_2474delinsAG	ENSP00000496441.1:p.Ser825=
ENST00000645506.1:c.2473_2474delinsAG	ENSP00000495455.1:p.Ser825=
ENST00000646415.1:c.2473_2474delinsAG	ENSP00000495543.1:p.Ser825=
ENST00000233146.6:c.2473_2474delinsAG	ENSP00000233146.2:p.Ser825=
ENST00000406134.5:c.2473_2474delinsAG	ENSP00000384199.1:p.Ser825=
ENST00000543555.5:c.2275_2276delinsAG	ENSP00000442697.1:p.Ser759=
ENST00000610696.4:c.869_870delinsAG	ENSP00000483159.1:n.869_870delinsAG
ENST00000613514.4:c.1013_1014delinsAG	ENSP00000484137.1:n.1013_1014delinsAG
ENST00000617333.3:c.1239_1240delinsAG	ENSP00000482468.1:n.1239_1240delinsAG
ENST00000617938.4:c.1445_1446delinsAG	ENSP00000481158.1:n.1445_1446delinsAG
ENST00000621359.2:c.39_40delinsAG	ENSP00000481416.1:n.39_40delinsAG
NM_000251.2:c.2473_2474delinsAG , LRG_218t1:c.2473_2474delinsAG	NP_000242.1:p.Ser825=
NM_001258281.1:c.2275_2276delinsAG	NP_001245210.1:p.Ser759=
XM_005264332.2:c.2473_2474delinsAG	XP_005264389.2:p.Ser825=
XM_011532867.1:c.2473_2474delinsAG	XP_011531169.1:p.Ser825=
XR_939685.1:n.2545_2546delinsAG
XM_005264332.4:c.2473_2474delinsAG	XP_005264389.2:p.Ser825=
XM_011532867.2:c.2473_2474delinsAG	XP_011531169.1:p.Ser825=
XR_001738747.2:n.2535_2536delinsAG
XR_939685.2:n.2535_2536delinsAG
NM_000251.3:c.2473_2474delinsAG MANE Select	NP_000242.1:p.Ser825=