Canonical Allele Identifier: CA1125694539

Gene: VPS13A

Linked Data

• dbSNP Id: rs1825980488
• gnomAD v3: 9-77211660-TAAGTTGAAAAATAAG-T
• gnomAD v4: 9-77211660-TAAGTTGAAAAATAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77211663_77211677del , CM000671.2:g.77211663_77211677del	GRCh38
NC_000009.11:g.79826579_79826593del , CM000671.1:g.79826579_79826593del	GRCh37
NC_000009.10:g.79016399_79016413del	NCBI36
NG_008931.1:g.39219_39233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360280.8:c.555+988_555+1002del MANE Select	ENSP00000353422.3:n.555+988_555+1002del
ENST00000643348.1:c.555+988_555+1002del	ENSP00000493592.1:n.555+988_555+1002del
ENST00000645632.1:c.555+988_555+1002del	ENSP00000496361.1:n.555+988_555+1002del
ENST00000357409.9:c.555+988_555+1002del	ENSP00000349985.5:n.555+988_555+1002del
ENST00000360280.7:c.555+988_555+1002del	ENSP00000353422.3:n.555+988_555+1002del
ENST00000376634.8:c.555+988_555+1002del	ENSP00000365821.4:n.555+988_555+1002del
ENST00000376636.7:c.555+988_555+1002del	ENSP00000365823.3:n.555+988_555+1002del
NM_001018037.1:c.555+988_555+1002del	NP_001018047.1:n.555+988_555+1002del
NM_001018038.2:c.555+988_555+1002del	NP_001018048.1:n.555+988_555+1002del
NM_015186.3:c.555+988_555+1002del	NP_056001.1:n.555+988_555+1002del
NM_033305.2:c.555+988_555+1002del	NP_150648.2:n.555+988_555+1002del
XR_242579.2:n.907+988_907+1002del
XR_242580.3:n.907+988_907+1002del
XR_929740.1:n.907+988_907+1002del
XR_001746259.1:n.907+988_907+1002del
XR_001746260.1:n.907+988_907+1002del
NM_033305.3:c.555+988_555+1002del MANE Select	NP_150648.2:n.555+988_555+1002del
NM_001018037.2:c.555+988_555+1002del	NP_001018047.1:n.555+988_555+1002del
NM_001018038.3:c.555+988_555+1002del	NP_001018048.1:n.555+988_555+1002del
NM_015186.4:c.555+988_555+1002del	NP_056001.1:n.555+988_555+1002del