Canonical Allele Identifier: CA2658838026

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43877449-CAGACCATGGGAATATGGGGAGACTCTGTGAATATGGGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877458_43877496del , CM000664.2:g.43877458_43877496del	GRCh38
NC_000002.11:g.44104597_44104635del , CM000664.1:g.44104597_44104635del	GRCh37
NC_000002.10:g.43958101_43958139del	NCBI36
NG_008884.1:g.43495_43533del
NG_008884.2:g.50517_50555del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-103_1757-65del MANE Select	ENSP00000272286.2:n.1757-103_1757-65del
ENST00000272286.2:c.1757-103_1757-65del	ENSP00000272286.2:n.1757-103_1757-65del
NM_022437.2:c.1757-103_1757-65del	NP_071882.1:n.1757-103_1757-65del
XM_005264483.2:c.1754-103_1754-65del	XP_005264540.1:n.1754-103_1754-65del
XM_011533029.1:c.1769-103_1769-65del	XP_011531331.1:n.1769-103_1769-65del
XM_011533030.1:c.1766-103_1766-65del	XP_011531332.1:n.1766-103_1766-65del
XM_011533031.1:c.1541-103_1541-65del	XP_011531333.1:n.1541-103_1541-65del
XR_939707.1:n.2259-103_2259-65del
NM_001357321.1:c.1754-103_1754-65del	NP_001344250.1:n.1754-103_1754-65del
XM_011533029.2:c.1769-103_1769-65del	XP_011531331.1:n.1769-103_1769-65del
XM_011533030.2:c.1766-103_1766-65del	XP_011531332.1:n.1766-103_1766-65del
XR_001738891.1:n.2273-103_2273-65del
XR_939707.2:n.2273-103_2273-65del
NM_022437.3:c.1757-103_1757-65del MANE Select	NP_071882.1:n.1757-103_1757-65del
NM_001357321.2:c.1754-103_1754-65del	NP_001344250.1:n.1754-103_1754-65del