Canonical Allele Identifier: CA2493964874

Gene: ABCG8

Linked Data

• dbSNP Id: rs1428285387

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877347_43877365del , CM000664.2:g.43877347_43877365del	GRCh38
NC_000002.11:g.44104486_44104504del , CM000664.1:g.44104486_44104504del	GRCh37
NC_000002.10:g.43957990_43958008del	NCBI36
NG_008884.1:g.43384_43402del
NG_008884.2:g.50406_50424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-214_1757-196del MANE Select	ENSP00000272286.2:n.1757-214_1757-196del
ENST00000272286.2:c.1757-214_1757-196del	ENSP00000272286.2:n.1757-214_1757-196del
NM_022437.2:c.1757-214_1757-196del	NP_071882.1:n.1757-214_1757-196del
XM_005264483.2:c.1754-214_1754-196del	XP_005264540.1:n.1754-214_1754-196del
XM_011533029.1:c.1769-214_1769-196del	XP_011531331.1:n.1769-214_1769-196del
XM_011533030.1:c.1766-214_1766-196del	XP_011531332.1:n.1766-214_1766-196del
XM_011533031.1:c.1541-214_1541-196del	XP_011531333.1:n.1541-214_1541-196del
XR_939707.1:n.2259-214_2259-196del
NM_001357321.1:c.1754-214_1754-196del	NP_001344250.1:n.1754-214_1754-196del
XM_011533029.2:c.1769-214_1769-196del	XP_011531331.1:n.1769-214_1769-196del
XM_011533030.2:c.1766-214_1766-196del	XP_011531332.1:n.1766-214_1766-196del
XR_001738891.1:n.2273-214_2273-196del
XR_939707.2:n.2273-214_2273-196del
NM_022437.3:c.1757-214_1757-196del MANE Select	NP_071882.1:n.1757-214_1757-196del
NM_001357321.2:c.1754-214_1754-196del	NP_001344250.1:n.1754-214_1754-196del