Canonical Allele Identifier: CA2663213225
Gene: ABCB6 HGNC NCBI
ATG9A HGNC NCBI

Linked Data

gnomAD v4: 2-219213761-CCAGA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219213764_219213767del , CM000664.2:g.219213764_219213767del GRCh38
NC_000002.11:g.220078486_220078489del , CM000664.1:g.220078486_220078489del GRCh37
NC_000002.10:g.219786730_219786733del NCBI36
NG_032110.1:g.10226_10229del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265316.9:c.1578+61_1578+64del (ABCB6) MANE Select ENSP00000265316.3:n.1578+61_1578+64del
ENST00000295750.5:c.1440+61_1440+64del (ABCB6) ENSP00000295750.5:n.1440+61_1440+64del
ENST00000265316.7:c.1578+61_1578+64del (ABCB6) ENSP00000265316.3:n.1578+61_1578+64del
ENST00000295750.4:c.1121+61_1121+64del (ABCB6)
ENST00000446716.5:c.4303+61_4303+64del (ATG9A)
ENST00000448398.5:c.654+61_654+64del (ABCB6)
ENST00000494639.5:n.487+61_487+64del (ABCB6)
ENST00000497882.5:n.1891+61_1891+64del (ABCB6)
NM_005689.2:c.1578+61_1578+64del (ABCB6) NP_005680.1:n.1578+61_1578+64del
NM_001349828.1:c.1440+61_1440+64del (ABCB6) NP_001336757.1:n.1440+61_1440+64del
NM_005689.3:c.1578+61_1578+64del (ABCB6) NP_005680.1:n.1578+61_1578+64del
NM_005689.4:c.1578+61_1578+64del (ABCB6) MANE Select NP_005680.1:n.1578+61_1578+64del
NM_001349828.2:c.1440+61_1440+64del (ABCB6) NP_001336757.1:n.1440+61_1440+64del
Search 100 bp 5'
Search 100 bp 3'