Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476384_47476386delinsAAA , CM000664.2:g.47476384_47476386delinsAAA	GRCh38
NC_000002.11:g.47703523_47703525delinsAAA , CM000664.1:g.47703523_47703525delinsAAA	GRCh37
NC_000002.10:g.47557027_47557029delinsAAA	NCBI36
NG_007110.2:g.78261_78263delinsAAA , LRG_218:g.78261_78263delinsAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2023_2025delinsAAA	ENSP00000495641.2:p.Lys675=
ENST00000233146.7:c.2023_2025delinsAAA MANE Select	ENSP00000233146.2:p.Lys675=
ENST00000543555.6:c.1825_1827delinsAAA	ENSP00000442697.1:p.Lys609=
ENST00000644092.1:c.323_325delinsAAA	ENSP00000496351.1:n.323_325delinsAAA
ENST00000645339.1:c.2023_2025delinsAAA	ENSP00000496441.1:p.Lys675=
ENST00000645506.1:c.2023_2025delinsAAA	ENSP00000495455.1:p.Lys675=
ENST00000646415.1:c.2023_2025delinsAAA	ENSP00000495543.1:p.Lys675=
ENST00000233146.6:c.2023_2025delinsAAA	ENSP00000233146.2:p.Lys675=
ENST00000406134.5:c.2023_2025delinsAAA	ENSP00000384199.1:p.Lys675=
ENST00000543555.5:c.1825_1827delinsAAA	ENSP00000442697.1:p.Lys609=
ENST00000610696.4:c.419_421delinsAAA	ENSP00000483159.1:n.419_421delinsAAA
ENST00000613514.4:c.563_565delinsAAA	ENSP00000484137.1:n.563_565delinsAAA
ENST00000617333.3:c.789_791delinsAAA	ENSP00000482468.1:n.789_791delinsAAA
ENST00000617938.4:c.995_997delinsAAA	ENSP00000481158.1:n.995_997delinsAAA
ENST00000621359.2:c.2023_2025delinsAAA	ENSP00000481416.1:p.Lys675=
NM_000251.2:c.2023_2025delinsAAA , LRG_218t1:c.2023_2025delinsAAA	NP_000242.1:p.Lys675=
NM_001258281.1:c.1825_1827delinsAAA	NP_001245210.1:p.Lys609=
XM_005264332.2:c.2023_2025delinsAAA	XP_005264389.2:p.Lys675=
XM_011532867.1:c.2023_2025delinsAAA	XP_011531169.1:p.Lys675=
XR_939685.1:n.2095_2097delinsAAA
XM_005264332.4:c.2023_2025delinsAAA	XP_005264389.2:p.Lys675=
XM_011532867.2:c.2023_2025delinsAAA	XP_011531169.1:p.Lys675=
XR_001738747.2:n.2085_2087delinsAAA
XR_939685.2:n.2085_2087delinsAAA
NM_000251.3:c.2023_2025delinsAAA MANE Select	NP_000242.1:p.Lys675=