Canonical Allele Identifier: CA16041299
Gene: ASS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370508
ClinVar RCV Id: RCV000411991
dbSNP Id: rs1057516544

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130464113del , CM000671.2:g.130464113del GRCh38
NC_000009.11:g.133339500del , CM000671.1:g.133339500del GRCh37
NC_000009.10:g.132329321del NCBI36
NG_011542.1:g.24407del

Transcript Alleles

HGVS Amino-acid change
ENST00000352480.10:c.366del
ENST00000352480.9:c.366del
ENST00000372393.7:c.366del
ENST00000372394.5:c.366del
ENST00000422569.5:c.366del
ENST00000443588.1:c.364-2612del ENSP00000397785.1:n.364-2612del
ENST00000467695.5:n.75del
NM_000050.4:c.366del
NM_054012.3:c.366del
XM_005272200.2:c.366del
XM_011518705.1:c.480del
XM_005272200.3:c.366del
XM_011518705.2:c.480del
XM_017014729.1:c.462del
NM_054012.4:c.366del