Canonical Allele Identifier: CA2493965317

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878119_43878120delinsCA , CM000664.2:g.43878119_43878120delinsCA	GRCh38
NC_000002.11:g.44105258_44105259delinsCA , CM000664.1:g.44105258_44105259delinsCA	GRCh37
NC_000002.10:g.43958762_43958763delinsCA	NCBI36
NG_008884.1:g.44156_44157delinsCA
NG_008884.2:g.51178_51179delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*206_*207delinsCA MANE Select	ENSP00000272286.2:n.*206_*207delinsCA
ENST00000272286.2:c.*206_*207delinsCA	ENSP00000272286.2:n.*206_*207delinsCA
NM_022437.2:c.*206_*207delinsCA	NP_071882.1:n.*206_*207delinsCA
XM_005264483.2:c.*206_*207delinsCA	XP_005264540.1:n.*206_*207delinsCA
XM_011533029.1:c.*206_*207delinsCA	XP_011531331.1:n.*206_*207delinsCA
XM_011533030.1:c.*206_*207delinsCA	XP_011531332.1:n.*206_*207delinsCA
XM_011533031.1:c.*206_*207delinsCA	XP_011531333.1:n.*206_*207delinsCA
XR_939707.1:n.2730_2731delinsCA
NM_001357321.1:c.*206_*207delinsCA	NP_001344250.1:n.*206_*207delinsCA
XM_011533029.2:c.*206_*207delinsCA	XP_011531331.1:n.*206_*207delinsCA
XM_011533030.2:c.*206_*207delinsCA	XP_011531332.1:n.*206_*207delinsCA
XR_001738891.1:n.2744_2745delinsCA
XR_939707.2:n.2744_2745delinsCA
NM_022437.3:c.*206_*207delinsCA MANE Select	NP_071882.1:n.*206_*207delinsCA
NM_001357321.2:c.*206_*207delinsCA	NP_001344250.1:n.*206_*207delinsCA