Canonical Allele Identifier: CA2658828154

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43846438-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846442_43846443del , CM000664.2:g.43846442_43846443del	GRCh38
NC_000002.11:g.44073581_44073582del , CM000664.1:g.44073581_44073582del	GRCh37
NC_000002.10:g.43927085_43927086del	NCBI36
NG_008884.1:g.12479_12480del
NG_008884.2:g.19501_19502del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.322+131_322+132del MANE Select	ENSP00000272286.2:n.322+131_322+132del
ENST00000643284.1:n.910_911del
ENST00000644611.1:c.334+131_334+132del	ENSP00000495423.1:n.334+131_334+132del
ENST00000272286.2:c.322+131_322+132del	ENSP00000272286.2:n.322+131_322+132del
NM_022437.2:c.322+131_322+132del	NP_071882.1:n.322+131_322+132del
XM_005264483.2:c.322+131_322+132del	XP_005264540.1:n.322+131_322+132del
XM_011533029.1:c.334+131_334+132del	XP_011531331.1:n.334+131_334+132del
XM_011533030.1:c.334+131_334+132del	XP_011531332.1:n.334+131_334+132del
XM_011533031.1:c.106+131_106+132del	XP_011531333.1:n.106+131_106+132del
XR_939707.1:n.824+131_824+132del
NM_001357321.1:c.322+131_322+132del	NP_001344250.1:n.322+131_322+132del
XM_011533029.2:c.334+131_334+132del	XP_011531331.1:n.334+131_334+132del
XM_011533030.2:c.334+131_334+132del	XP_011531332.1:n.334+131_334+132del
XR_001738891.1:n.838+131_838+132del
XR_939707.2:n.838+131_838+132del
NM_022437.3:c.322+131_322+132del MANE Select	NP_071882.1:n.322+131_322+132del
NM_001357321.2:c.322+131_322+132del	NP_001344250.1:n.322+131_322+132del