Canonical Allele Identifier: CA590703550

Gene: ASS1

Linked Data

• dbSNP Id: rs1564901108
• gnomAD v2: 9-133327577-AG-A
• gnomAD v4: 9-130452190-AG-A
• MyVariant Identifiers: chr9:g.133327578del (hg19) ; chr9:g.130452191del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452193del , CM000671.2:g.130452193del	GRCh38
NC_000009.11:g.133327580del , CM000671.1:g.133327580del	GRCh37
NC_000009.10:g.132317401del	NCBI36
NG_011542.1:g.12487del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.-5-31del MANE Select	ENSP00000253004.6:n.-5-31del
ENST00000352480.9:c.-5-31del	ENSP00000253004.6:n.-5-31del
ENST00000372393.7:c.-5-31del	ENSP00000361469.2:n.-5-31del
ENST00000372394.5:c.-5-31del	ENSP00000361471.1:n.-5-31del
ENST00000422569.5:c.-5-31del	ENSP00000394212.1:n.-5-31del
NM_000050.4:c.-5-31del	NP_000041.2:n.-5-31del
NM_054012.3:c.-5-31del	NP_446464.1:n.-5-31del
XM_005272200.2:c.-5-31del	XP_005272257.1:n.-5-31del
XM_011518705.1:c.110-31del	XP_011517007.1:n.110-31del
XM_005272200.3:c.-5-31del	XP_005272257.1:n.-5-31del
XM_011518705.2:c.110-31del	XP_011517007.1:n.110-31del
XM_017014729.1:c.92-31del	XP_016870218.1:n.92-31del
NM_054012.4:c.-5-31del MANE Select	NP_446464.1:n.-5-31del