Canonical Allele Identifier: CA2658838256

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43878126-C-CTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878127_43878128insTTT , CM000664.2:g.43878127_43878128insTTT	GRCh38
NC_000002.11:g.44105266_44105267insTTT , CM000664.1:g.44105266_44105267insTTT	GRCh37
NC_000002.10:g.43958770_43958771insTTT	NCBI36
NG_008884.1:g.44164_44165insTTT
NG_008884.2:g.51186_51187insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*214_*215insTTT MANE Select	ENSP00000272286.2:n.*214_*215insTTT
ENST00000272286.2:c.*214_*215insTTT	ENSP00000272286.2:n.*214_*215insTTT
NM_022437.2:c.*214_*215insTTT	NP_071882.1:n.*214_*215insTTT
XM_005264483.2:c.*214_*215insTTT	XP_005264540.1:n.*214_*215insTTT
XM_011533029.1:c.*214_*215insTTT	XP_011531331.1:n.*214_*215insTTT
XM_011533030.1:c.*214_*215insTTT	XP_011531332.1:n.*214_*215insTTT
XM_011533031.1:c.*214_*215insTTT	XP_011531333.1:n.*214_*215insTTT
XR_939707.1:n.2738_2739insTTT
NM_001357321.1:c.*214_*215insTTT	NP_001344250.1:n.*214_*215insTTT
XM_011533029.2:c.*214_*215insTTT	XP_011531331.1:n.*214_*215insTTT
XM_011533030.2:c.*214_*215insTTT	XP_011531332.1:n.*214_*215insTTT
XR_001738891.1:n.2752_2753insTTT
XR_939707.2:n.2752_2753insTTT
NM_022437.3:c.*214_*215insTTT MANE Select	NP_071882.1:n.*214_*215insTTT
NM_001357321.2:c.*214_*215insTTT	NP_001344250.1:n.*214_*215insTTT