Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142498181_142498183delinsTAA , CM000665.2:g.142498181_142498183delinsTAA	GRCh38
NC_000003.11:g.142217023_142217025delinsTAA , CM000665.1:g.142217023_142217025delinsTAA	GRCh37
NC_000003.10:g.143699713_143699715delinsTAA	NCBI36
NG_008951.1:g.85644_85646delinsTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.5558+414_5558+416delinsTTA MANE Select	ENSP00000343741.4:n.5558+414_5558+416delinsTTA
ENST00000513291.2:n.742+414_742+416delinsTTA
ENST00000653868.1:n.5587+414_5587+416delinsTTA
ENST00000656590.1:c.4348+414_4348+416delinsTTA
ENST00000661310.1:c.5366+414_5366+416delinsTTA	ENSP00000499589.1:n.5366+414_5366+416delinsTTA
ENST00000666943.1:n.1022+414_1022+416delinsTTA
ENST00000350721.8:c.5558+414_5558+416delinsTTA	ENSP00000343741.4:n.5558+414_5558+416delinsTTA
ENST00000507620.2:n.654+414_654+416delinsTTA
ENST00000514393.5:n.241+414_241+416delinsTTA
NM_001184.3:c.5558+414_5558+416delinsTTA	NP_001175.2:n.5558+414_5558+416delinsTTA
XM_011512924.1:c.5564+414_5564+416delinsTTA	XP_011511226.1:n.5564+414_5564+416delinsTTA
XM_011512925.1:c.5372+414_5372+416delinsTTA	XP_011511227.1:n.5372+414_5372+416delinsTTA
XM_011512926.1:c.5564+414_5564+416delinsTTA	XP_011511228.1:n.5564+414_5564+416delinsTTA
XM_011512927.1:c.5564+414_5564+416delinsTTA	XP_011511229.1:n.5564+414_5564+416delinsTTA
XR_924147.1:n.5653+414_5653+416delinsTTA
XR_924148.1:n.5653+414_5653+416delinsTTA
XR_924149.1:n.5653+414_5653+416delinsTTA
NM_001354579.1:c.5366+414_5366+416delinsTTA	NP_001341508.1:n.5366+414_5366+416delinsTTA
XR_001740179.2:n.5647+414_5647+416delinsTTA
XR_001740180.2:n.5653+414_5653+416delinsTTA
XR_001740181.2:n.5653+414_5653+416delinsTTA
XR_001740182.1:n.5653+414_5653+416delinsTTA
XR_002959543.1:n.5653+414_5653+416delinsTTA
XR_924148.2:n.5653+414_5653+416delinsTTA
NM_001184.4:c.5558+414_5558+416delinsTTA MANE Select	NP_001175.2:n.5558+414_5558+416delinsTTA
NM_001354579.2:c.5366+414_5366+416delinsTTA	NP_001341508.1:n.5366+414_5366+416delinsTTA