Canonical Allele Identifier: CA2690367370
Gene: VPS13A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77219888_77219890del , CM000671.2:g.77219888_77219890del GRCh38
NC_000009.11:g.79834804_79834806del , CM000671.1:g.79834804_79834806del GRCh37
NC_000009.10:g.79024624_79024626del NCBI36
NG_008931.1:g.47444_47446del

Transcript Alleles

HGVS Amino-acid change
ENST00000360280.8:c.755-66_755-64del MANE Select ENSP00000353422.3:n.755-66_755-64del
ENST00000643348.1:c.755-66_755-64del ENSP00000493592.1:n.755-66_755-64del
ENST00000645632.1:c.755-66_755-64del ENSP00000496361.1:n.755-66_755-64del
ENST00000357409.9:c.755-66_755-64del ENSP00000349985.5:n.755-66_755-64del
ENST00000360280.7:c.755-66_755-64del ENSP00000353422.3:n.755-66_755-64del
ENST00000376634.8:c.755-66_755-64del ENSP00000365821.4:n.755-66_755-64del
ENST00000376636.7:c.755-66_755-64del ENSP00000365823.3:n.755-66_755-64del
NM_001018037.1:c.755-66_755-64del NP_001018047.1:n.755-66_755-64del
NM_001018038.2:c.755-66_755-64del NP_001018048.1:n.755-66_755-64del
NM_015186.3:c.755-66_755-64del NP_056001.1:n.755-66_755-64del
NM_033305.2:c.755-66_755-64del NP_150648.2:n.755-66_755-64del
XR_242579.2:n.1107-66_1107-64del
XR_242580.3:n.1107-66_1107-64del
XR_929740.1:n.1107-66_1107-64del
XR_001746259.1:n.1107-66_1107-64del
XR_001746260.1:n.1107-66_1107-64del
NM_033305.3:c.755-66_755-64del MANE Select NP_150648.2:n.755-66_755-64del
NM_001018037.2:c.755-66_755-64del NP_001018047.1:n.755-66_755-64del
NM_001018038.3:c.755-66_755-64del NP_001018048.1:n.755-66_755-64del
NM_015186.4:c.755-66_755-64del NP_056001.1:n.755-66_755-64del