Canonical Allele Identifier: CA2493945223

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846414_43846417delinsGAAT , CM000664.2:g.43846414_43846417delinsGAAT	GRCh38
NC_000002.11:g.44073553_44073556delinsGAAT , CM000664.1:g.44073553_44073556delinsGAAT	GRCh37
NC_000002.10:g.43927057_43927060delinsGAAT	NCBI36
NG_008884.1:g.12451_12454delinsGAAT
NG_008884.2:g.19473_19476delinsGAAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.322+103_322+106delinsGAAT MANE Select	ENSP00000272286.2:n.322+103_322+106delins...
ENST00000643284.1:n.882_885delinsGAAT
ENST00000644611.1:c.334+103_334+106delinsGAAT	ENSP00000495423.1:n.334+103_334+106delins...
ENST00000272286.2:c.322+103_322+106delinsGAAT	ENSP00000272286.2:n.322+103_322+106delins...
NM_022437.2:c.322+103_322+106delinsGAAT	NP_071882.1:n.322+103_322+106delinsGAAT
XM_005264483.2:c.322+103_322+106delinsGAAT	XP_005264540.1:n.322+103_322+106delinsGAA...
XM_011533029.1:c.334+103_334+106delinsGAAT	XP_011531331.1:n.334+103_334+106delinsGAA...
XM_011533030.1:c.334+103_334+106delinsGAAT	XP_011531332.1:n.334+103_334+106delinsGAA...
XM_011533031.1:c.106+103_106+106delinsGAAT	XP_011531333.1:n.106+103_106+106delinsGAA...
XR_939707.1:n.824+103_824+106delinsGAAT
NM_001357321.1:c.322+103_322+106delinsGAAT	NP_001344250.1:n.322+103_322+106delinsGAA...
XM_011533029.2:c.334+103_334+106delinsGAAT	XP_011531331.1:n.334+103_334+106delinsGAA...
XM_011533030.2:c.334+103_334+106delinsGAAT	XP_011531332.1:n.334+103_334+106delinsGAA...
XR_001738891.1:n.838+103_838+106delinsGAAT
XR_939707.2:n.838+103_838+106delinsGAAT
NM_022437.3:c.322+103_322+106delinsGAAT MANE Select	NP_071882.1:n.322+103_322+106delinsGAAT
NM_001357321.2:c.322+103_322+106delinsGAAT	NP_001344250.1:n.322+103_322+106delinsGAA...