Canonical Allele Identifier: CA647006890

Gene: ABCG8

Linked Data

• COSMIC: COSN15618935

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878073dup , CM000664.2:g.43878073dup	GRCh38
NC_000002.11:g.44105212dup , CM000664.1:g.44105212dup	GRCh37
NC_000002.10:g.43958716dup	NCBI36
NG_008884.1:g.44110dup
NG_008884.2:g.51132dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*160dup MANE Select	ENSP00000272286.2:n.*160dup
ENST00000272286.2:c.*160dup	ENSP00000272286.2:n.*160dup
NM_022437.2:c.*160dup	NP_071882.1:n.*160dup
XM_005264483.2:c.*160dup	XP_005264540.1:n.*160dup
XM_011533029.1:c.*160dup	XP_011531331.1:n.*160dup
XM_011533030.1:c.*160dup	XP_011531332.1:n.*160dup
XM_011533031.1:c.*160dup	XP_011531333.1:n.*160dup
XR_939707.1:n.2684dup
NM_001357321.1:c.*160dup	NP_001344250.1:n.*160dup
XM_011533029.2:c.*160dup	XP_011531331.1:n.*160dup
XM_011533030.2:c.*160dup	XP_011531332.1:n.*160dup
XR_001738891.1:n.2698dup
XR_939707.2:n.2698dup
NM_022437.3:c.*160dup MANE Select	NP_071882.1:n.*160dup
NM_001357321.2:c.*160dup	NP_001344250.1:n.*160dup