Canonical Allele Identifier: CA590701244

Gene: ASS1

Linked Data

• gnomAD v2: 9-133364645-TCA-T
• gnomAD v3: 9-130489258-TCA-T
• gnomAD v4: 9-130489258-TCA-T
• MyVariant Identifiers: chr9:g.133364646_133364647del (hg19) ; chr9:g.130489259_130489260del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489259_130489260del , CM000671.2:g.130489259_130489260del	GRCh38
NC_000009.11:g.133364646_133364647del , CM000671.1:g.133364646_133364647del	GRCh37
NC_000009.10:g.132354467_132354468del	NCBI36
NG_011542.1:g.49553_49554del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.839-74_839-73del MANE Select	ENSP00000253004.6:n.839-74_839-73del
ENST00000352480.9:c.839-74_839-73del	ENSP00000253004.6:n.839-74_839-73del
ENST00000372386.6:n.110-74_110-73del
ENST00000372393.7:c.839-74_839-73del	ENSP00000361469.2:n.839-74_839-73del
ENST00000372394.5:c.839-74_839-73del	ENSP00000361471.1:n.839-74_839-73del
ENST00000470849.4:n.564-74_564-73del
ENST00000492400.5:n.348-74_348-73del
ENST00000493984.6:n.616-74_616-73del
NM_000050.4:c.839-74_839-73del	NP_000041.2:n.839-74_839-73del
NM_054012.3:c.839-74_839-73del	NP_446464.1:n.839-74_839-73del
XM_005272200.2:c.839-74_839-73del	XP_005272257.1:n.839-74_839-73del
XM_011518705.1:c.953-74_953-73del	XP_011517007.1:n.953-74_953-73del
XM_005272200.3:c.839-74_839-73del	XP_005272257.1:n.839-74_839-73del
XM_011518705.2:c.953-74_953-73del	XP_011517007.1:n.953-74_953-73del
XM_017014729.1:c.935-74_935-73del	XP_016870218.1:n.935-74_935-73del
NM_054012.4:c.839-74_839-73del MANE Select	NP_446464.1:n.839-74_839-73del