Canonical Allele Identifier: CA2695199420

Gene: ASS1

Linked Data

• ClinVar Variation Id: 2679034
• ClinVar RCV Id: RCV003474048

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480383del , CM000671.2:g.130480383del	GRCh38
NC_000009.11:g.133355770del , CM000671.1:g.133355770del	GRCh37
NC_000009.10:g.132345591del	NCBI36
NG_011542.1:g.40677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.774-2del MANE Select	ENSP00000253004.6:n.774-2del
ENST00000352480.9:c.774-2del	ENSP00000253004.6:n.774-2del
ENST00000372386.6:n.45-2del
ENST00000372393.7:c.774-2del	ENSP00000361469.2:n.774-2del
ENST00000372394.5:c.774-2del	ENSP00000361471.1:n.774-2del
ENST00000470849.4:n.499-2del
ENST00000492400.5:n.283-2del
ENST00000493984.6:n.551-2del
NM_000050.4:c.774-2del	NP_000041.2:n.774-2del
NM_054012.3:c.774-2del	NP_446464.1:n.774-2del
XM_005272200.2:c.774-2del	XP_005272257.1:n.774-2del
XM_011518705.1:c.888-2del	XP_011517007.1:n.888-2del
XM_005272200.3:c.774-2del	XP_005272257.1:n.774-2del
XM_011518705.2:c.888-2del	XP_011517007.1:n.888-2del
XM_017014729.1:c.870-2del	XP_016870218.1:n.870-2del
NM_054012.4:c.774-2del MANE Select	NP_446464.1:n.774-2del