Canonical Allele Identifier: CA2658828099

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43846317-G-GCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846317_43846318insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA , CM000664.2:g.43846317_43846318insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA	GRCh38
NC_000002.11:g.44073456_44073457insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA , CM000664.1:g.44073456_44073457insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA	GRCh37
NC_000002.10:g.43926960_43926961insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA	NCBI36
NG_008884.1:g.12354_12355insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA
NG_008884.2:g.19376_19377insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.322+6_322+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA MANE Select	ENSP00000272286.2:n.322+6_322+7insCTGCAAGTGTCATGTCTGTTTGGCCTC...
ENST00000643284.1:n.785_786insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA
ENST00000644611.1:c.334+6_334+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA	ENSP00000495423.1:n.334+6_334+7insCTGCAAGTGTCATGTCTGTTTGGCCTC...
ENST00000272286.2:c.322+6_322+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA	ENSP00000272286.2:n.322+6_322+7insCTGCAAGTGTCATGTCTGTTTGGCCTC...
NM_022437.2:c.322+6_322+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA	NP_071882.1:n.322+6_322+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGA...
XM_005264483.2:c.322+6_322+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA	XP_005264540.1:n.322+6_322+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGG...
XM_011533029.1:c.334+6_334+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA	XP_011531331.1:n.334+6_334+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGG...
XM_011533030.1:c.334+6_334+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA	XP_011531332.1:n.334+6_334+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGG...
XM_011533031.1:c.106+6_106+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA	XP_011531333.1:n.106+6_106+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGG...
XR_939707.1:n.824+6_824+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA
NM_001357321.1:c.322+6_322+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA	NP_001344250.1:n.322+6_322+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGG...
XM_011533029.2:c.334+6_334+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA	XP_011531331.1:n.334+6_334+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGG...
XM_011533030.2:c.334+6_334+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA	XP_011531332.1:n.334+6_334+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGG...
XR_001738891.1:n.838+6_838+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA
XR_939707.2:n.838+6_838+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA
NM_022437.3:c.322+6_322+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA MANE Select	NP_071882.1:n.322+6_322+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGA...
NM_001357321.2:c.322+6_322+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGGAGATATTAAGCCAGCTGCAGGGAAGA	NP_001344250.1:n.322+6_322+7insCTGCAAGTGTCATGTCTGTTTGGCCTCAGG...