Canonical Allele Identifier: CA2493965247

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878007_43878008delinsCA , CM000664.2:g.43878007_43878008delinsCA	GRCh38
NC_000002.11:g.44105146_44105147delinsCA , CM000664.1:g.44105146_44105147delinsCA	GRCh37
NC_000002.10:g.43958650_43958651delinsCA	NCBI36
NG_008884.1:g.44044_44045delinsCA
NG_008884.2:g.51066_51067delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*94_*95delinsCA MANE Select	ENSP00000272286.2:n.*94_*95delinsCA
ENST00000272286.2:c.*94_*95delinsCA	ENSP00000272286.2:n.*94_*95delinsCA
NM_022437.2:c.*94_*95delinsCA	NP_071882.1:n.*94_*95delinsCA
XM_005264483.2:c.*94_*95delinsCA	XP_005264540.1:n.*94_*95delinsCA
XM_011533029.1:c.*94_*95delinsCA	XP_011531331.1:n.*94_*95delinsCA
XM_011533030.1:c.*94_*95delinsCA	XP_011531332.1:n.*94_*95delinsCA
XM_011533031.1:c.*94_*95delinsCA	XP_011531333.1:n.*94_*95delinsCA
XR_939707.1:n.2618_2619delinsCA
NM_001357321.1:c.*94_*95delinsCA	NP_001344250.1:n.*94_*95delinsCA
XM_011533029.2:c.*94_*95delinsCA	XP_011531331.1:n.*94_*95delinsCA
XM_011533030.2:c.*94_*95delinsCA	XP_011531332.1:n.*94_*95delinsCA
XR_001738891.1:n.2632_2633delinsCA
XR_939707.2:n.2632_2633delinsCA
NM_022437.3:c.*94_*95delinsCA MANE Select	NP_071882.1:n.*94_*95delinsCA
NM_001357321.2:c.*94_*95delinsCA	NP_001344250.1:n.*94_*95delinsCA