Canonical Allele Identifier: CA532703135

Gene: ABCG8

Linked Data

• dbSNP Id: rs1451003018
• gnomAD v2: 2-44073377-T-TTGTGAGCTGGGCATCCAGAACCTAAGCTTCA
• gnomAD v4: 2-43846238-T-TTGTGAGCTGGGCATCCAGAACCTAAGCTTCA
• MyVariant Identifiers: chr2:g.44073377_44073378insTGTGAGCTGGGCATCCAGAACCTAAGCTTCA (hg19) ; chr2:g.43846238_43846239insTGTGAGCTGGGCATCCAGAACCTAAGCTTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846239_43846269dup , CM000664.2:g.43846239_43846269dup	GRCh38
NC_000002.11:g.44073378_44073408dup , CM000664.1:g.44073378_44073408dup	GRCh37
NC_000002.10:g.43926882_43926912dup	NCBI36
NG_008884.1:g.12276_12306dup
NG_008884.2:g.19298_19328dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.250_280dup MANE Select	ENSP00000272286.2:p.Lys94MetfsTer2
ENST00000643284.1:n.707_737dup
ENST00000644611.1:c.262_292dup	ENSP00000495423.1:p.Lys98MetfsTer2
ENST00000272286.2:c.250_280dup	ENSP00000272286.2:p.Lys94MetfsTer2
NM_022437.2:c.250_280dup	NP_071882.1:p.Lys94MetfsTer2
XM_005264483.2:c.250_280dup	XP_005264540.1:p.Lys94MetfsTer2
XM_011533029.1:c.262_292dup	XP_011531331.1:p.Lys98MetfsTer2
XM_011533030.1:c.262_292dup	XP_011531332.1:p.Lys98MetfsTer2
XM_011533031.1:c.34_64dup	XP_011531333.1:p.Lys22MetfsTer2
XR_939707.1:n.752_782dup
NM_001357321.1:c.250_280dup	NP_001344250.1:p.Lys94MetfsTer2
XM_011533029.2:c.262_292dup	XP_011531331.1:p.Lys98MetfsTer2
XM_011533030.2:c.262_292dup	XP_011531332.1:p.Lys98MetfsTer2
XR_001738891.1:n.766_796dup
XR_939707.2:n.766_796dup
NM_022437.3:c.250_280dup MANE Select	NP_071882.1:p.Lys94MetfsTer2
NM_001357321.2:c.250_280dup	NP_001344250.1:p.Lys94MetfsTer2