Canonical Allele Identifier: CA916083074
Gene: ASS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 845376
ClinVar RCV Id: RCV001048427
dbSNP Id: rs1846142146

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130480443del , CM000671.2:g.130480443del GRCh38
NC_000009.11:g.133355830del , CM000671.1:g.133355830del GRCh37
NC_000009.10:g.132345651del NCBI36
NG_011542.1:g.40737del

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.832del MANE Select ENSP00000253004.6:p.Ser278ProfsTer18
ENST00000352480.9:c.832del ENSP00000253004.6:p.Ser278ProfsTer18
ENST00000372386.6:n.103del
ENST00000372393.7:c.832del ENSP00000361469.2:p.Ser278ProfsTer18
ENST00000372394.5:c.832del ENSP00000361471.1:p.Ser278ProfsTer18
ENST00000470849.4:n.557del
ENST00000492400.5:n.341del
ENST00000493984.6:n.609del
NM_000050.4:c.832del NP_000041.2:p.Ser278ProfsTer18
NM_054012.3:c.832del NP_446464.1:p.Ser278ProfsTer18
XM_005272200.2:c.832del XP_005272257.1:p.Ser278ProfsTer18
XM_011518705.1:c.946del XP_011517007.1:p.Ser316ProfsTer18
XM_005272200.3:c.832del XP_005272257.1:p.Ser278ProfsTer18
XM_011518705.2:c.946del XP_011517007.1:p.Ser316ProfsTer18
XM_017014729.1:c.928del XP_016870218.1:p.Ser310ProfsTer18
NM_054012.4:c.832del MANE Select NP_446464.1:p.Ser278ProfsTer18