Canonical Allele Identifier: CA2692135024

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489445-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489446del , CM000671.2:g.130489446del	GRCh38
NC_000009.11:g.133364833del , CM000671.1:g.133364833del	GRCh37
NC_000009.10:g.132354654del	NCBI36
NG_011542.1:g.49740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.952del MANE Select	ENSP00000253004.6:p.Ala318LeufsTer?
ENST00000352480.9:c.952del	ENSP00000253004.6:p.Ala318LeufsTer?
ENST00000372386.6:n.223del
ENST00000372393.7:c.952del	ENSP00000361469.2:p.Ala318LeufsTer?
ENST00000372394.5:c.952del	ENSP00000361471.1:p.Ala318LeufsTer?
NM_000050.4:c.952del	NP_000041.2:p.Ala318LeufsTer?
NM_054012.3:c.952del	NP_446464.1:p.Ala318LeufsTer?
XM_005272200.2:c.952del	XP_005272257.1:p.Ala318LeufsTer?
XM_011518705.1:c.1066del	XP_011517007.1:p.Ala356LeufsTer?
XM_005272200.3:c.952del	XP_005272257.1:p.Ala318LeufsTer?
XM_011518705.2:c.1066del	XP_011517007.1:p.Ala356LeufsTer?
XM_017014729.1:c.1048del	XP_016870218.1:p.Ala350LeufsTer?
NM_054012.4:c.952del MANE Select	NP_446464.1:p.Ala318LeufsTer?