Canonical Allele Identifier: CA2493965290

Gene: ABCG8

Linked Data

• dbSNP Id: rs1670022852
• gnomAD v4: 2-43878067-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878067_43878068insA , CM000664.2:g.43878067_43878068insA	GRCh38
NC_000002.11:g.44105206_44105207insA , CM000664.1:g.44105206_44105207insA	GRCh37
NC_000002.10:g.43958710_43958711insA	NCBI36
NG_008884.1:g.44104_44105insA
NG_008884.2:g.51126_51127insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*154_*155insA MANE Select	ENSP00000272286.2:n.*154_*155insA
ENST00000272286.2:c.*154_*155insA	ENSP00000272286.2:n.*154_*155insA
NM_022437.2:c.*154_*155insA	NP_071882.1:n.*154_*155insA
XM_005264483.2:c.*154_*155insA	XP_005264540.1:n.*154_*155insA
XM_011533029.1:c.*154_*155insA	XP_011531331.1:n.*154_*155insA
XM_011533030.1:c.*154_*155insA	XP_011531332.1:n.*154_*155insA
XM_011533031.1:c.*154_*155insA	XP_011531333.1:n.*154_*155insA
XR_939707.1:n.2678_2679insA
NM_001357321.1:c.*154_*155insA	NP_001344250.1:n.*154_*155insA
XM_011533029.2:c.*154_*155insA	XP_011531331.1:n.*154_*155insA
XM_011533030.2:c.*154_*155insA	XP_011531332.1:n.*154_*155insA
XR_001738891.1:n.2692_2693insA
XR_939707.2:n.2692_2693insA
NM_022437.3:c.*154_*155insA MANE Select	NP_071882.1:n.*154_*155insA
NM_001357321.2:c.*154_*155insA	NP_001344250.1:n.*154_*155insA