Canonical Allele Identifier: CA16041298
Gene: ASS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370638
ClinVar RCV Id: RCV000411227
dbSNP Id: rs1057516648
MyVariant Identifiers: chr9:g.133333839del (hg19) chr9:g.130458452del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130458452del , CM000671.2:g.130458452del GRCh38
NC_000009.11:g.133333839del , CM000671.1:g.133333839del GRCh37
NC_000009.10:g.132323660del NCBI36
NG_011542.1:g.18746del

Transcript Alleles

HGVS Amino-acid change
ENST00000352480.10:c.226del MANE Select ENSP00000253004.6:p.Ala76ProfsTer?
ENST00000352480.9:c.226del ENSP00000253004.6:p.Ala76ProfsTer?
ENST00000372393.7:c.226del ENSP00000361469.2:p.Ala76ProfsTer?
ENST00000372394.5:c.226del ENSP00000361471.1:p.Ala76ProfsTer?
ENST00000422569.5:c.226del ENSP00000394212.1:p.Ala76ProfsTer?
ENST00000443588.1:c.226del ENSP00000397785.1:p.Ala76ProfsTer?
NM_000050.4:c.226del NP_000041.2:p.Ala76ProfsTer?
NM_054012.3:c.226del NP_446464.1:p.Ala76ProfsTer?
XM_005272200.2:c.226del XP_005272257.1:p.Ala76ProfsTer?
XM_011518705.1:c.340del XP_011517007.1:p.Ala114ProfsTer?
XM_005272200.3:c.226del XP_005272257.1:p.Ala76ProfsTer?
XM_011518705.2:c.340del XP_011517007.1:p.Ala114ProfsTer?
XM_017014729.1:c.322del XP_016870218.1:p.Ala108ProfsTer?
NM_054012.4:c.226del MANE Select NP_446464.1:p.Ala76ProfsTer?
Search 100 bp 5'
Search 100 bp 3'