Canonical Allele Identifier: CA129257

Gene: ABCB6 ATG9A

Linked Data

• ClinVar Variation Id: 30478
• ClinVar RCV Id: RCV000023435
• dbSNP Id: rs387906908
• gnomAD v4: 2-219213466-CAT-C
• MyVariant Identifiers: chr2:g.220078189_220078190del (hg19) ; chr2:g.219213467_219213468del (hg38)
• PubMed: PMID:22246506

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219213467_219213468del , CM000664.2:g.219213467_219213468del	GRCh38
NC_000002.11:g.220078189_220078190del , CM000664.1:g.220078189_220078190del	GRCh37
NC_000002.10:g.219786433_219786434del	NCBI36
NG_032110.1:g.10523_10524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265316.9:c.1690_1691del (ABCB6) MANE Select	ENSP00000265316.3:p.Met564ValfsTer2
ENST00000295750.5:c.1552_1553del (ABCB6)	ENSP00000295750.5:p.Met518ValfsTer2
ENST00000265316.7:c.1690_1691del (ABCB6)	ENSP00000265316.3:p.Met564ValfsTer2
ENST00000295750.4:c.1233_1234del (ABCB6)
ENST00000446716.5:c.4415_4416del (ATG9A)
ENST00000448398.5:c.766_767del (ABCB6)
ENST00000497882.5:n.2003_2004del (ABCB6)
NM_005689.2:c.1690_1691del (ABCB6)	NP_005680.1:p.Met564ValfsTer2
NM_001349828.1:c.1552_1553del (ABCB6)	NP_001336757.1:p.Met518ValfsTer2
NM_005689.3:c.1690_1691del (ABCB6)	NP_005680.1:p.Met564ValfsTer2
NM_005689.4:c.1690_1691del (ABCB6) MANE Select	NP_005680.1:p.Met564ValfsTer2
NM_001349828.2:c.1552_1553del (ABCB6)	NP_001336757.1:p.Met518ValfsTer2