Canonical Allele Identifier: CA590703559

Gene: ASS1

Linked Data

• dbSNP Id: rs1258545594
• gnomAD v2: 9-133327735-TG-T
• gnomAD v4: 9-130452348-TG-T
• MyVariant Identifiers: chr9:g.133327736del (hg19) ; chr9:g.130452349del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452351del , CM000671.2:g.130452351del	GRCh38
NC_000009.11:g.133327738del , CM000671.1:g.133327738del	GRCh37
NC_000009.10:g.132317559del	NCBI36
NG_011542.1:g.12645del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.105+18del MANE Select	ENSP00000253004.6:n.105+18del
ENST00000352480.9:c.105+18del	ENSP00000253004.6:n.105+18del
ENST00000372393.7:c.105+18del	ENSP00000361469.2:n.105+18del
ENST00000372394.5:c.105+18del	ENSP00000361471.1:n.105+18del
ENST00000422569.5:c.105+18del	ENSP00000394212.1:n.105+18del
ENST00000443588.1:c.105+18del	ENSP00000397785.1:n.105+18del
NM_000050.4:c.105+18del	NP_000041.2:n.105+18del
NM_054012.3:c.105+18del	NP_446464.1:n.105+18del
XM_005272200.2:c.105+18del	XP_005272257.1:n.105+18del
XM_011518705.1:c.219+18del	XP_011517007.1:n.219+18del
XM_005272200.3:c.105+18del	XP_005272257.1:n.105+18del
XM_011518705.2:c.219+18del	XP_011517007.1:n.219+18del
XM_017014729.1:c.201+18del	XP_016870218.1:n.201+18del
NM_054012.4:c.105+18del MANE Select	NP_446464.1:n.105+18del