Canonical Allele Identifier: CA2493965271

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878036_43878037delinsCG , CM000664.2:g.43878036_43878037delinsCG	GRCh38
NC_000002.11:g.44105175_44105176delinsCG , CM000664.1:g.44105175_44105176delinsCG	GRCh37
NC_000002.10:g.43958679_43958680delinsCG	NCBI36
NG_008884.1:g.44073_44074delinsCG
NG_008884.2:g.51095_51096delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*123_*124delinsCG MANE Select	ENSP00000272286.2:n.*123_*124delinsCG
ENST00000272286.2:c.*123_*124delinsCG	ENSP00000272286.2:n.*123_*124delinsCG
NM_022437.2:c.*123_*124delinsCG	NP_071882.1:n.*123_*124delinsCG
XM_005264483.2:c.*123_*124delinsCG	XP_005264540.1:n.*123_*124delinsCG
XM_011533029.1:c.*123_*124delinsCG	XP_011531331.1:n.*123_*124delinsCG
XM_011533030.1:c.*123_*124delinsCG	XP_011531332.1:n.*123_*124delinsCG
XM_011533031.1:c.*123_*124delinsCG	XP_011531333.1:n.*123_*124delinsCG
XR_939707.1:n.2647_2648delinsCG
NM_001357321.1:c.*123_*124delinsCG	NP_001344250.1:n.*123_*124delinsCG
XM_011533029.2:c.*123_*124delinsCG	XP_011531331.1:n.*123_*124delinsCG
XM_011533030.2:c.*123_*124delinsCG	XP_011531332.1:n.*123_*124delinsCG
XR_001738891.1:n.2661_2662delinsCG
XR_939707.2:n.2661_2662delinsCG
NM_022437.3:c.*123_*124delinsCG MANE Select	NP_071882.1:n.*123_*124delinsCG
NM_001357321.2:c.*123_*124delinsCG	NP_001344250.1:n.*123_*124delinsCG