Canonical Allele Identifier: CA2692134720

Gene: ASS1

Linked Data

• gnomAD v4: 9-130489304-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489308del , CM000671.2:g.130489308del	GRCh38
NC_000009.11:g.133364695del , CM000671.1:g.133364695del	GRCh37
NC_000009.10:g.132354516del	NCBI36
NG_011542.1:g.49602del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.839-25del MANE Select	ENSP00000253004.6:n.839-25del
ENST00000352480.9:c.839-25del	ENSP00000253004.6:n.839-25del
ENST00000372386.6:n.110-25del
ENST00000372393.7:c.839-25del	ENSP00000361469.2:n.839-25del
ENST00000372394.5:c.839-25del	ENSP00000361471.1:n.839-25del
ENST00000470849.4:n.564-25del
ENST00000492400.5:n.348-25del
ENST00000493984.6:n.616-25del
NM_000050.4:c.839-25del	NP_000041.2:n.839-25del
NM_054012.3:c.839-25del	NP_446464.1:n.839-25del
XM_005272200.2:c.839-25del	XP_005272257.1:n.839-25del
XM_011518705.1:c.953-25del	XP_011517007.1:n.953-25del
XM_005272200.3:c.839-25del	XP_005272257.1:n.839-25del
XM_011518705.2:c.953-25del	XP_011517007.1:n.953-25del
XM_017014729.1:c.935-25del	XP_016870218.1:n.935-25del
NM_054012.4:c.839-25del MANE Select	NP_446464.1:n.839-25del