Canonical Allele Identifier: CA2658821078

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43839251-T-TGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839252_43839253insCGG , CM000664.2:g.43839252_43839253insCGG	GRCh38
NC_000002.11:g.44066391_44066392insCGG , CM000664.1:g.44066391_44066392insCGG	GRCh37
NC_000002.10:g.43919895_43919896insCGG	NCBI36
NG_008883.1:g.4568_4569insCGC
NG_008884.1:g.5289_5290insCGG
NG_008884.2:g.12311_12312insCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.63+136_63+137insCGG MANE Select	ENSP00000272286.2:n.63+136_63+137insCGG
ENST00000643284.1:n.521-5255_521-5254insCGG
ENST00000644611.1:c.76-5255_76-5254insCGG	ENSP00000495423.1:n.76-5255_76-5254insCGG
ENST00000272286.2:c.63+136_63+137insCGG	ENSP00000272286.2:n.63+136_63+137insCGG
NM_022437.2:c.63+136_63+137insCGG	NP_071882.1:n.63+136_63+137insCGG
XM_005264483.2:c.63+136_63+137insCGG	XP_005264540.1:n.63+136_63+137insCGG
XM_011533029.1:c.76-5255_76-5254insCGG	XP_011531331.1:n.76-5255_76-5254insCGG
XM_011533030.1:c.76-5255_76-5254insCGG	XP_011531332.1:n.76-5255_76-5254insCGG
XM_011533031.1:c.-153-5255_-153-5254insCGG	XP_011531333.1:n.-153-5255_-153-5254insCGG
XR_939707.1:n.566-5255_566-5254insCGG
NM_001357321.1:c.63+136_63+137insCGG	NP_001344250.1:n.63+136_63+137insCGG
XM_011533029.2:c.76-5255_76-5254insCGG	XP_011531331.1:n.76-5255_76-5254insCGG
XM_011533030.2:c.76-5255_76-5254insCGG	XP_011531332.1:n.76-5255_76-5254insCGG
XR_001738891.1:n.580-5255_580-5254insCGG
XR_939707.2:n.580-5255_580-5254insCGG
NM_022437.3:c.63+136_63+137insCGG MANE Select	NP_071882.1:n.63+136_63+137insCGG
NM_001357321.2:c.63+136_63+137insCGG	NP_001344250.1:n.63+136_63+137insCGG