Canonical Allele Identifier: CA532280613

Gene: ABCG8

Linked Data

• dbSNP Id: rs1318970244
• gnomAD v2: 2-44066185-T-TG
• gnomAD v4: 2-43839046-T-TG
• MyVariant Identifiers: chr2:g.44066185_44066186insG (hg19) ; chr2:g.43839046_43839047insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839049dup , CM000664.2:g.43839049dup	GRCh38
NC_000002.11:g.44066188dup , CM000664.1:g.44066188dup	GRCh37
NC_000002.10:g.43919692dup	NCBI36
NG_008883.1:g.4773dup
NG_008884.1:g.5086dup
NG_008884.2:g.12108dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.-5dup MANE Select	ENSP00000272286.2:n.-5dup
ENST00000643284.1:n.521-5458dup
ENST00000644611.1:c.76-5458dup	ENSP00000495423.1:n.76-5458dup
ENST00000272286.2:c.-5dup	ENSP00000272286.2:n.-5dup
NM_022437.2:c.-5dup	NP_071882.1:n.-5dup
XM_005264483.2:c.-5dup	XP_005264540.1:n.-5dup
XM_011533029.1:c.76-5458dup	XP_011531331.1:n.76-5458dup
XM_011533030.1:c.76-5458dup	XP_011531332.1:n.76-5458dup
XM_011533031.1:c.-153-5458dup	XP_011531333.1:n.-153-5458dup
XR_939707.1:n.566-5458dup
NM_001357321.1:c.-5dup	NP_001344250.1:n.-5dup
XM_011533029.2:c.76-5458dup	XP_011531331.1:n.76-5458dup
XM_011533030.2:c.76-5458dup	XP_011531332.1:n.76-5458dup
XR_001738891.1:n.580-5458dup
XR_939707.2:n.580-5458dup
NM_022437.3:c.-5dup MANE Select	NP_071882.1:n.-5dup
NM_001357321.2:c.-5dup	NP_001344250.1:n.-5dup