Canonical Allele Identifier: CA2692119348

Gene: ASS1

Linked Data

• gnomAD v4: 9-130452235-AGCAAAGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452236_130452243del , CM000671.2:g.130452236_130452243del	GRCh38
NC_000009.11:g.133327623_133327630del , CM000671.1:g.133327623_133327630del	GRCh37
NC_000009.10:g.132317444_132317451del	NCBI36
NG_011542.1:g.12530_12537del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.8_15del MANE Select	ENSP00000253004.6:p.Ser3IlefsTer25
ENST00000352480.9:c.8_15del	ENSP00000253004.6:p.Ser3IlefsTer25
ENST00000372393.7:c.8_15del	ENSP00000361469.2:p.Ser3IlefsTer25
ENST00000372394.5:c.8_15del	ENSP00000361471.1:p.Ser3IlefsTer25
ENST00000422569.5:c.8_15del	ENSP00000394212.1:p.Ser3IlefsTer25
ENST00000443588.1:c.8_15del	ENSP00000397785.1:p.Ser3IlefsTer25
NM_000050.4:c.8_15del	NP_000041.2:p.Ser3IlefsTer25
NM_054012.3:c.8_15del	NP_446464.1:p.Ser3IlefsTer25
XM_005272200.2:c.8_15del	XP_005272257.1:p.Ser3IlefsTer25
XM_011518705.1:c.122_129del	XP_011517007.1:p.Ser41IlefsTer25
XM_005272200.3:c.8_15del	XP_005272257.1:p.Ser3IlefsTer25
XM_011518705.2:c.122_129del	XP_011517007.1:p.Ser41IlefsTer25
XM_017014729.1:c.104_111del	XP_016870218.1:p.Ser35IlefsTer25
NM_054012.4:c.8_15del MANE Select	NP_446464.1:p.Ser3IlefsTer25