Canonical Allele Identifier: CA2658820963

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43839176-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839182_43839183del , CM000664.2:g.43839182_43839183del	GRCh38
NC_000002.11:g.44066321_44066322del , CM000664.1:g.44066321_44066322del	GRCh37
NC_000002.10:g.43919825_43919826del	NCBI36
NG_008883.1:g.4642_4643del
NG_008884.1:g.5219_5220del
NG_008884.2:g.12241_12242del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.63+66_63+67del MANE Select	ENSP00000272286.2:n.63+66_63+67del
ENST00000643284.1:n.521-5325_521-5324del
ENST00000644611.1:c.76-5325_76-5324del	ENSP00000495423.1:n.76-5325_76-5324del
ENST00000272286.2:c.63+66_63+67del	ENSP00000272286.2:n.63+66_63+67del
NM_022437.2:c.63+66_63+67del	NP_071882.1:n.63+66_63+67del
XM_005264483.2:c.63+66_63+67del	XP_005264540.1:n.63+66_63+67del
XM_011533029.1:c.76-5325_76-5324del	XP_011531331.1:n.76-5325_76-5324del
XM_011533030.1:c.76-5325_76-5324del	XP_011531332.1:n.76-5325_76-5324del
XM_011533031.1:c.-153-5325_-153-5324del	XP_011531333.1:n.-153-5325_-153-5324del
XR_939707.1:n.566-5325_566-5324del
NM_001357321.1:c.63+66_63+67del	NP_001344250.1:n.63+66_63+67del
XM_011533029.2:c.76-5325_76-5324del	XP_011531331.1:n.76-5325_76-5324del
XM_011533030.2:c.76-5325_76-5324del	XP_011531332.1:n.76-5325_76-5324del
XR_001738891.1:n.580-5325_580-5324del
XR_939707.2:n.580-5325_580-5324del
NM_022437.3:c.63+66_63+67del MANE Select	NP_071882.1:n.63+66_63+67del
NM_001357321.2:c.63+66_63+67del	NP_001344250.1:n.63+66_63+67del