Canonical Allele Identifier: CA2658821407

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43844619-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43844621del , CM000664.2:g.43844621del	GRCh38
NC_000002.11:g.44071760del , CM000664.1:g.44071760del	GRCh37
NC_000002.10:g.43925264del	NCBI36
NG_008884.1:g.10658del
NG_008884.2:g.17680del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.165+13del MANE Select	ENSP00000272286.2:n.165+13del
ENST00000643284.1:n.622+13del
ENST00000644611.1:c.177+13del	ENSP00000495423.1:n.177+13del
ENST00000272286.2:c.165+13del	ENSP00000272286.2:n.165+13del
NM_022437.2:c.165+13del	NP_071882.1:n.165+13del
XM_005264483.2:c.165+13del	XP_005264540.1:n.165+13del
XM_011533029.1:c.177+13del	XP_011531331.1:n.177+13del
XM_011533030.1:c.177+13del	XP_011531332.1:n.177+13del
XM_011533031.1:c.-52+13del	XP_011531333.1:n.-52+13del
XR_939707.1:n.667+13del
NM_001357321.1:c.165+13del	NP_001344250.1:n.165+13del
XM_011533029.2:c.177+13del	XP_011531331.1:n.177+13del
XM_011533030.2:c.177+13del	XP_011531332.1:n.177+13del
XR_001738891.1:n.681+13del
XR_939707.2:n.681+13del
NM_022437.3:c.165+13del MANE Select	NP_071882.1:n.165+13del
NM_001357321.2:c.165+13del	NP_001344250.1:n.165+13del