Canonical Allele Identifier: CA2658820770

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43839084-C-CAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839084_43839085insAG , CM000664.2:g.43839084_43839085insAG	GRCh38
NC_000002.11:g.44066223_44066224insAG , CM000664.1:g.44066223_44066224insAG	GRCh37
NC_000002.10:g.43919727_43919728insAG	NCBI36
NG_008883.1:g.4735_4736insCT
NG_008884.1:g.5121_5122insAG
NG_008884.2:g.12143_12144insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.31_32insAG MANE Select	ENSP00000272286.2:p.Leu11GlnfsTer?
ENST00000643284.1:n.521-5423_521-5422insAG
ENST00000644611.1:c.76-5423_76-5422insAG	ENSP00000495423.1:n.76-5423_76-5422insAG
ENST00000272286.2:c.31_32insAG	ENSP00000272286.2:p.Leu11GlnfsTer?
NM_022437.2:c.31_32insAG	NP_071882.1:p.Leu11GlnfsTer?
XM_005264483.2:c.31_32insAG	XP_005264540.1:p.Leu11GlnfsTer?
XM_011533029.1:c.76-5423_76-5422insAG	XP_011531331.1:n.76-5423_76-5422insAG
XM_011533030.1:c.76-5423_76-5422insAG	XP_011531332.1:n.76-5423_76-5422insAG
XM_011533031.1:c.-153-5423_-153-5422insAG	XP_011531333.1:n.-153-5423_-153-5422insAG
XR_939707.1:n.566-5423_566-5422insAG
NM_001357321.1:c.31_32insAG	NP_001344250.1:p.Leu11GlnfsTer?
XM_011533029.2:c.76-5423_76-5422insAG	XP_011531331.1:n.76-5423_76-5422insAG
XM_011533030.2:c.76-5423_76-5422insAG	XP_011531332.1:n.76-5423_76-5422insAG
XR_001738891.1:n.580-5423_580-5422insAG
XR_939707.2:n.580-5423_580-5422insAG
NM_022437.3:c.31_32insAG MANE Select	NP_071882.1:p.Leu11GlnfsTer?
NM_001357321.2:c.31_32insAG	NP_001344250.1:p.Leu11GlnfsTer?