Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87958053_87958054insT , CM000672.2:g.87958053_87958054insT	GRCh38
NC_000010.10:g.89717810_89717811insT , CM000672.1:g.89717810_89717811insT	GRCh37
NC_000010.9:g.89707790_89707791insT	NCBI36
NG_007466.2:g.99615_99616insT , LRG_311:g.99615_99616insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.801+34_801+35insT	ENSP00000514759.2:n.801+34_801+35insT
ENST00000710265.1:c.801+34_801+35insT	ENSP00000518161.1:n.801+34_801+35insT
ENST00000472832.3:c.801+34_801+35insT	ENSP00000483066.2:n.801+34_801+35insT
ENST00000688158.2:n.1536+34_1536+35insT
ENST00000688922.2:c.631+34_631+35insT	ENSP00000508742.2:n.631+34_631+35insT
ENST00000700021.1:c.756+34_756+35insT	ENSP00000514757.1:n.756+34_756+35insT
ENST00000700022.1:c.140+34_140+35insT	ENSP00000514758.1:n.140+34_140+35insT
ENST00000700023.1:n.1959+34_1959+35insT
ENST00000700024.1:n.2193+34_2193+35insT
ENST00000700025.1:n.1570+34_1570+35insT
ENST00000700026.1:n.438+34_438+35insT
ENST00000700029.1:c.635+34_635+35insT
ENST00000706954.1:c.801+34_801+35insT	ENSP00000516674.1:n.801+34_801+35insT
ENST00000706955.1:c.836+34_836+35insT	ENSP00000516675.1:n.836+34_836+35insT
ENST00000686459.1:c.387+34_387+35insT	ENSP00000508909.1:n.387+34_387+35insT
ENST00000688158.1:c.912+34_912+35insT	ENSP00000509254.1:n.912+34_912+35insT
ENST00000688308.1:c.801+34_801+35insT	ENSP00000508752.1:n.801+34_801+35insT
ENST00000688922.1:c.722+34_722+35insT
ENST00000693560.1:c.1320+34_1320+35insT	ENSP00000509861.1:n.1320+34_1320+35insT
ENST00000371953.8:c.801+34_801+35insT MANE Select	ENSP00000361021.3:n.801+34_801+35insT
ENST00000371953.7:c.801+34_801+35insT	ENSP00000361021.3:n.801+34_801+35insT
ENST00000472832.2:c.228+34_228+35insT	ENSP00000483066.1:n.228+34_228+35insT
NM_000314.5:c.801+34_801+35insT	NP_000305.3:n.801+34_801+35insT
NM_000314.6:c.801+34_801+35insT	NP_000305.3:n.801+34_801+35insT
NM_001304717.2:c.1320+34_1320+35insT	NP_001291646.2:n.1320+34_1320+35insT
NM_001304718.1:c.210+34_210+35insT	NP_001291647.1:n.210+34_210+35insT
XM_006717926.2:c.756+34_756+35insT	XP_006717989.1:n.756+34_756+35insT
XM_011539981.1:c.801+34_801+35insT	XP_011538283.1:n.801+34_801+35insT
XM_011539982.1:c.705+34_705+35insT	XP_011538284.1:n.705+34_705+35insT
XR_945791.1:n.1371+34_1371+35insT
NM_000314.7:c.801+34_801+35insT	NP_000305.3:n.801+34_801+35insT
NM_001304717.5:c.1320+34_1320+35insT	NP_001291646.4:n.1320+34_1320+35insT
NM_001304718.2:c.210+34_210+35insT	NP_001291647.1:n.210+34_210+35insT
NM_000314.8:c.801+34_801+35insT MANE Select	NP_000305.3:n.801+34_801+35insT