Canonical Allele Identifier: CA2658828233

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43846517-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846518_43846519del , CM000664.2:g.43846518_43846519del	GRCh38
NC_000002.11:g.44073657_44073658del , CM000664.1:g.44073657_44073658del	GRCh37
NC_000002.10:g.43927161_43927162del	NCBI36
NG_008884.1:g.12555_12556del
NG_008884.2:g.19577_19578del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.322+207_322+208del MANE Select	ENSP00000272286.2:n.322+207_322+208del
ENST00000643284.1:n.986_987del
ENST00000644611.1:c.334+207_334+208del	ENSP00000495423.1:n.334+207_334+208del
ENST00000272286.2:c.322+207_322+208del	ENSP00000272286.2:n.322+207_322+208del
NM_022437.2:c.322+207_322+208del	NP_071882.1:n.322+207_322+208del
XM_005264483.2:c.322+207_322+208del	XP_005264540.1:n.322+207_322+208del
XM_011533029.1:c.334+207_334+208del	XP_011531331.1:n.334+207_334+208del
XM_011533030.1:c.334+207_334+208del	XP_011531332.1:n.334+207_334+208del
XM_011533031.1:c.106+207_106+208del	XP_011531333.1:n.106+207_106+208del
XR_939707.1:n.824+207_824+208del
NM_001357321.1:c.322+207_322+208del	NP_001344250.1:n.322+207_322+208del
XM_011533029.2:c.334+207_334+208del	XP_011531331.1:n.334+207_334+208del
XM_011533030.2:c.334+207_334+208del	XP_011531332.1:n.334+207_334+208del
XR_001738891.1:n.838+207_838+208del
XR_939707.2:n.838+207_838+208del
NM_022437.3:c.322+207_322+208del MANE Select	NP_071882.1:n.322+207_322+208del
NM_001357321.2:c.322+207_322+208del	NP_001344250.1:n.322+207_322+208del