Canonical Allele Identifier: CA2118889

Gene: ABCB6 ATG9A

Linked Data

• dbSNP Id: rs767517641
• ExAC: 2:220074769 CTG / C
• gnomAD v2: 2-220074769-CTG-C
• gnomAD v3: 2-219210047-CTG-C
• gnomAD v4: 2-219210047-CTG-C
• MyVariant Identifiers: chr2:g.220074770_220074771del (hg19) ; chr2:g.219210048_219210049del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210048_219210049del , CM000664.2:g.219210048_219210049del	GRCh38
NC_000002.11:g.220074770_220074771del , CM000664.1:g.220074770_220074771del	GRCh37
NC_000002.10:g.219783014_219783015del	NCBI36
NG_032110.1:g.13942_13943del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.2421-3_2421-2del (ABCB6) MANE Select	ENSP00000265316.3:n.2421-3_2421-2del
ENST00000295750.5:c.2283-3_2283-2del (ABCB6)	ENSP00000295750.5:n.2283-3_2283-2del
ENST00000265316.7:c.2421-3_2421-2del (ABCB6)	ENSP00000265316.3:n.2421-3_2421-2del
ENST00000295750.4:c.1964-3_1964-2del (ABCB6)
ENST00000443805.1:c.409-3_409-2del (ABCB6)
ENST00000446716.5:c.4971-3_4971-2del (ATG9A)
ENST00000485773.5:n.688-3_688-2del (ABCB6)
ENST00000487380.5:n.494-3_494-2del (ABCB6)
ENST00000497882.5:n.2734-3_2734-2del (ABCB6)
NM_005689.2:c.2421-3_2421-2del (ABCB6)	NP_005680.1:n.2421-3_2421-2del
NM_001349828.1:c.2283-3_2283-2del (ABCB6)	NP_001336757.1:n.2283-3_2283-2del
NM_005689.3:c.2421-3_2421-2del (ABCB6)	NP_005680.1:n.2421-3_2421-2del
NM_005689.4:c.2421-3_2421-2del (ABCB6) MANE Select	NP_005680.1:n.2421-3_2421-2del
NM_001349828.2:c.2283-3_2283-2del (ABCB6)	NP_001336757.1:n.2283-3_2283-2del