Canonical Allele Identifier: CA2493965304

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878100_43878101delinsAG , CM000664.2:g.43878100_43878101delinsAG	GRCh38
NC_000002.11:g.44105239_44105240delinsAG , CM000664.1:g.44105239_44105240delinsAG	GRCh37
NC_000002.10:g.43958743_43958744delinsAG	NCBI36
NG_008884.1:g.44137_44138delinsAG
NG_008884.2:g.51159_51160delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*187_*188delinsAG MANE Select	ENSP00000272286.2:n.*187_*188delinsAG
ENST00000272286.2:c.*187_*188delinsAG	ENSP00000272286.2:n.*187_*188delinsAG
NM_022437.2:c.*187_*188delinsAG	NP_071882.1:n.*187_*188delinsAG
XM_005264483.2:c.*187_*188delinsAG	XP_005264540.1:n.*187_*188delinsAG
XM_011533029.1:c.*187_*188delinsAG	XP_011531331.1:n.*187_*188delinsAG
XM_011533030.1:c.*187_*188delinsAG	XP_011531332.1:n.*187_*188delinsAG
XM_011533031.1:c.*187_*188delinsAG	XP_011531333.1:n.*187_*188delinsAG
XR_939707.1:n.2711_2712delinsAG
NM_001357321.1:c.*187_*188delinsAG	NP_001344250.1:n.*187_*188delinsAG
XM_011533029.2:c.*187_*188delinsAG	XP_011531331.1:n.*187_*188delinsAG
XM_011533030.2:c.*187_*188delinsAG	XP_011531332.1:n.*187_*188delinsAG
XR_001738891.1:n.2725_2726delinsAG
XR_939707.2:n.2725_2726delinsAG
NM_022437.3:c.*187_*188delinsAG MANE Select	NP_071882.1:n.*187_*188delinsAG
NM_001357321.2:c.*187_*188delinsAG	NP_001344250.1:n.*187_*188delinsAG