Canonical Allele Identifier: CA860482932

Gene: ASS1

Linked Data

• dbSNP Id: rs1490034561
• gnomAD v3: 9-130480235-AC-A
• gnomAD v4: 9-130480235-AC-A
• MyVariant Identifiers: chr9:g.133355623del (hg19) ; chr9:g.130480236del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480238del , CM000671.2:g.130480238del	GRCh38
NC_000009.11:g.133355625del , CM000671.1:g.133355625del	GRCh37
NC_000009.10:g.132345446del	NCBI36
NG_011542.1:g.40532del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.774-147del MANE Select	ENSP00000253004.6:n.774-147del
ENST00000352480.9:c.774-147del	ENSP00000253004.6:n.774-147del
ENST00000372386.6:n.45-147del
ENST00000372393.7:c.774-147del	ENSP00000361469.2:n.774-147del
ENST00000372394.5:c.774-147del	ENSP00000361471.1:n.774-147del
ENST00000470849.4:n.499-147del
ENST00000492400.5:n.283-147del
ENST00000493984.6:n.551-147del
NM_000050.4:c.774-147del	NP_000041.2:n.774-147del
NM_054012.3:c.774-147del	NP_446464.1:n.774-147del
XM_005272200.2:c.774-147del	XP_005272257.1:n.774-147del
XM_011518705.1:c.888-147del	XP_011517007.1:n.888-147del
XM_005272200.3:c.774-147del	XP_005272257.1:n.774-147del
XM_011518705.2:c.888-147del	XP_011517007.1:n.888-147del
XM_017014729.1:c.870-147del	XP_016870218.1:n.870-147del
NM_054012.4:c.774-147del MANE Select	NP_446464.1:n.774-147del