Canonical Allele Identifier: CA590703529

Gene: ASS1

Linked Data

• dbSNP Id: rs1354182315
• gnomAD v2: 9-133327384-TC-T
• gnomAD v4: 9-130451997-TC-T
• MyVariant Identifiers: chr9:g.133327385del (hg19) ; chr9:g.130451998del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452000del , CM000671.2:g.130452000del	GRCh38
NC_000009.11:g.133327387del , CM000671.1:g.133327387del	GRCh37
NC_000009.10:g.132317208del	NCBI36
NG_011542.1:g.12294del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.-5-224del MANE Select	ENSP00000253004.6:n.-5-224del
ENST00000352480.9:c.-5-224del	ENSP00000253004.6:n.-5-224del
ENST00000372393.7:c.-5-224del	ENSP00000361469.2:n.-5-224del
ENST00000372394.5:c.-49del	ENSP00000361471.1:n.-49del
ENST00000422569.5:c.-5-224del	ENSP00000394212.1:n.-5-224del
NM_000050.4:c.-5-224del	NP_000041.2:n.-5-224del
NM_054012.3:c.-5-224del	NP_446464.1:n.-5-224del
XM_005272200.2:c.-5-224del	XP_005272257.1:n.-5-224del
XM_011518705.1:c.110-224del	XP_011517007.1:n.110-224del
XM_005272200.3:c.-5-224del	XP_005272257.1:n.-5-224del
XM_011518705.2:c.110-224del	XP_011517007.1:n.110-224del
XM_017014729.1:c.92-224del	XP_016870218.1:n.92-224del
NM_054012.4:c.-5-224del MANE Select	NP_446464.1:n.-5-224del