Canonical Allele Identifier: CA1329111860
Gene: ABCB6 HGNC NCBI
ATG9A HGNC NCBI

Linked Data

dbSNP Id: rs1950565924
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219210708dup , CM000664.2:g.219210708dup GRCh38
NC_000002.11:g.220075430dup , CM000664.1:g.220075430dup GRCh37
NC_000002.10:g.219783674dup NCBI36
NG_032110.1:g.13283dup

Transcript Alleles

HGVS Amino-acid change
ENST00000265316.9:c.2256+3dup (ABCB6) MANE Select ENSP00000265316.3:n.2256+3dup
ENST00000295750.5:c.2118+3dup (ABCB6) ENSP00000295750.5:n.2118+3dup
ENST00000265316.7:c.2256+3dup (ABCB6) ENSP00000265316.3:n.2256+3dup
ENST00000295750.4:c.1799+3dup (ABCB6)
ENST00000443805.1:c.244+3dup (ABCB6)
ENST00000446716.5:c.4806+3dup (ATG9A)
ENST00000485773.5:n.291dup (ABCB6)
ENST00000487380.5:n.329+3dup (ABCB6)
ENST00000497882.5:n.2569+3dup (ABCB6)
NM_005689.2:c.2256+3dup (ABCB6) NP_005680.1:n.2256+3dup
NM_001349828.1:c.2118+3dup (ABCB6) NP_001336757.1:n.2118+3dup
NM_005689.3:c.2256+3dup (ABCB6) NP_005680.1:n.2256+3dup
NM_005689.4:c.2256+3dup (ABCB6) MANE Select NP_005680.1:n.2256+3dup
NM_001349828.2:c.2118+3dup (ABCB6) NP_001336757.1:n.2118+3dup
Search 100 bp 5'
Search 100 bp 3'