Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957977_87957982delinsCAAAGT , CM000672.2:g.87957977_87957982delinsCAAAGT	GRCh38
NC_000010.10:g.89717734_89717739delinsCAAAGT , CM000672.1:g.89717734_89717739delinsCAAAGT	GRCh37
NC_000010.9:g.89707714_89707719delinsCAAAGT	NCBI36
NG_007466.2:g.99539_99544delinsCAAAGT , LRG_311:g.99539_99544delinsCAAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.759_764delinsCAAAGT	ENSP00000514759.2:p.Ile253=
ENST00000710265.1:c.759_764delinsCAAAGT	ENSP00000518161.1:p.Ile253=
ENST00000472832.3:c.759_764delinsCAAAGT	ENSP00000483066.2:p.Ile253=
ENST00000688158.2:n.1494_1499delinsCAAAGT
ENST00000688922.2:c.589_594delinsCAAAGT	ENSP00000508742.2:n.589_594delinsCAAAGT
ENST00000700021.1:c.714_719delinsCAAAGT	ENSP00000514757.1:p.Ile238=
ENST00000700022.1:c.98_103delinsCAAAGT	ENSP00000514758.1:n.98_103delinsCAAAGT
ENST00000700023.1:n.1917_1922delinsCAAAGT
ENST00000700024.1:n.2151_2156delinsCAAAGT
ENST00000700025.1:n.1528_1533delinsCAAAGT
ENST00000700026.1:n.396_401delinsCAAAGT
ENST00000700029.1:c.593_598delinsCAAAGT
ENST00000706954.1:c.759_764delinsCAAAGT	ENSP00000516674.1:p.Ile253=
ENST00000706955.1:c.794_799delinsCAAAGT	ENSP00000516675.1:n.794_799delinsCAAAGT
ENST00000686459.1:c.345_350delinsCAAAGT	ENSP00000508909.1:n.345_350delinsCAAAGT
ENST00000688158.1:c.870_875delinsCAAAGT	ENSP00000509254.1:n.870_875delinsCAAAGT
ENST00000688308.1:c.759_764delinsCAAAGT	ENSP00000508752.1:p.Ile253=
ENST00000688922.1:c.680_685delinsCAAAGT
ENST00000693560.1:c.1278_1283delinsCAAAGT	ENSP00000509861.1:p.Ile426=
ENST00000371953.8:c.759_764delinsCAAAGT MANE Select	ENSP00000361021.3:p.Ile253=
ENST00000371953.7:c.759_764delinsCAAAGT	ENSP00000361021.3:p.Ile253=
ENST00000472832.2:c.186_191delinsCAAAGT	ENSP00000483066.1:p.Ile62=
NM_000314.5:c.759_764delinsCAAAGT	NP_000305.3:p.Ile253=
NM_000314.6:c.759_764delinsCAAAGT	NP_000305.3:p.Ile253=
NM_001304717.2:c.1278_1283delinsCAAAGT	NP_001291646.2:p.Ile426=
NM_001304718.1:c.168_173delinsCAAAGT	NP_001291647.1:p.Ile56=
XM_006717926.2:c.714_719delinsCAAAGT	XP_006717989.1:p.Ile238=
XM_011539981.1:c.759_764delinsCAAAGT	XP_011538283.1:p.Ile253=
XM_011539982.1:c.663_668delinsCAAAGT	XP_011538284.1:p.Ile221=
XR_945791.1:n.1329_1334delinsCAAAGT
NM_000314.7:c.759_764delinsCAAAGT	NP_000305.3:p.Ile253=
NM_001304717.5:c.1278_1283delinsCAAAGT	NP_001291646.4:p.Ile426=
NM_001304718.2:c.168_173delinsCAAAGT	NP_001291647.1:p.Ile56=
NM_000314.8:c.759_764delinsCAAAGT MANE Select	NP_000305.3:p.Ile253=