Canonical Allele Identifier: CA3006969421

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846412_43846424del , CM000664.2:g.43846412_43846424del	GRCh38
NC_000002.11:g.44073551_44073563del , CM000664.1:g.44073551_44073563del	GRCh37
NC_000002.10:g.43927055_43927067del	NCBI36
NG_008884.1:g.12449_12461del
NG_008884.2:g.19471_19483del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.322+101_322+113del MANE Select	ENSP00000272286.2:n.322+101_322+113del
ENST00000643284.1:n.880_892del
ENST00000644611.1:c.334+101_334+113del	ENSP00000495423.1:n.334+101_334+113del
ENST00000272286.2:c.322+101_322+113del	ENSP00000272286.2:n.322+101_322+113del
NM_022437.2:c.322+101_322+113del	NP_071882.1:n.322+101_322+113del
XM_005264483.2:c.322+101_322+113del	XP_005264540.1:n.322+101_322+113del
XM_011533029.1:c.334+101_334+113del	XP_011531331.1:n.334+101_334+113del
XM_011533030.1:c.334+101_334+113del	XP_011531332.1:n.334+101_334+113del
XM_011533031.1:c.106+101_106+113del	XP_011531333.1:n.106+101_106+113del
XR_939707.1:n.824+101_824+113del
NM_001357321.1:c.322+101_322+113del	NP_001344250.1:n.322+101_322+113del
XM_011533029.2:c.334+101_334+113del	XP_011531331.1:n.334+101_334+113del
XM_011533030.2:c.334+101_334+113del	XP_011531332.1:n.334+101_334+113del
XR_001738891.1:n.838+101_838+113del
XR_939707.2:n.838+101_838+113del
NM_022437.3:c.322+101_322+113del MANE Select	NP_071882.1:n.322+101_322+113del
NM_001357321.2:c.322+101_322+113del	NP_001344250.1:n.322+101_322+113del