Canonical Allele Identifier: CA2658838103

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43877861-T-TGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877862_43877864dup , CM000664.2:g.43877862_43877864dup	GRCh38
NC_000002.11:g.44105001_44105003dup , CM000664.1:g.44105001_44105003dup	GRCh37
NC_000002.10:g.43958505_43958507dup	NCBI36
NG_008884.1:g.43899_43901dup
NG_008884.2:g.50921_50923dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1971_1973dup MANE Select	ENSP00000272286.2:p.Tyr658Ter
ENST00000272286.2:c.1971_1973dup	ENSP00000272286.2:p.Tyr658Ter
NM_022437.2:c.1971_1973dup	NP_071882.1:p.Tyr658Ter
XM_005264483.2:c.1968_1970dup	XP_005264540.1:p.Tyr657Ter
XM_011533029.1:c.1983_1985dup	XP_011531331.1:p.Tyr662Ter
XM_011533030.1:c.1980_1982dup	XP_011531332.1:p.Tyr661Ter
XM_011533031.1:c.1755_1757dup	XP_011531333.1:p.Tyr586Ter
XR_939707.1:n.2473_2475dup
NM_001357321.1:c.1968_1970dup	NP_001344250.1:p.Tyr657Ter
XM_011533029.2:c.1983_1985dup	XP_011531331.1:p.Tyr662Ter
XM_011533030.2:c.1980_1982dup	XP_011531332.1:p.Tyr661Ter
XR_001738891.1:n.2487_2489dup
XR_939707.2:n.2487_2489dup
NM_022437.3:c.1971_1973dup MANE Select	NP_071882.1:p.Tyr658Ter
NM_001357321.2:c.1968_1970dup	NP_001344250.1:p.Tyr657Ter