Canonical Allele Identifier: CA2692119353

Gene: ASS1

Linked Data

• gnomAD v4: 9-130452237-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130452240del , CM000671.2:g.130452240del	GRCh38
NC_000009.11:g.133327627del , CM000671.1:g.133327627del	GRCh37
NC_000009.10:g.132317448del	NCBI36
NG_011542.1:g.12534del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.12del MANE Select	ENSP00000253004.6:p.Gly5AlafsTer20
ENST00000352480.9:c.12del	ENSP00000253004.6:p.Gly5AlafsTer20
ENST00000372393.7:c.12del	ENSP00000361469.2:p.Gly5AlafsTer20
ENST00000372394.5:c.12del	ENSP00000361471.1:p.Gly5AlafsTer20
ENST00000422569.5:c.12del	ENSP00000394212.1:p.Gly5AlafsTer20
ENST00000443588.1:c.12del	ENSP00000397785.1:p.Gly5AlafsTer20
NM_000050.4:c.12del	NP_000041.2:p.Gly5AlafsTer20
NM_054012.3:c.12del	NP_446464.1:p.Gly5AlafsTer20
XM_005272200.2:c.12del	XP_005272257.1:p.Gly5AlafsTer20
XM_011518705.1:c.126del	XP_011517007.1:p.Gly43AlafsTer20
XM_005272200.3:c.12del	XP_005272257.1:p.Gly5AlafsTer20
XM_011518705.2:c.126del	XP_011517007.1:p.Gly43AlafsTer20
XM_017014729.1:c.108del	XP_016870218.1:p.Gly37AlafsTer20
NM_054012.4:c.12del MANE Select	NP_446464.1:p.Gly5AlafsTer20