Canonical Allele Identifier: CA1881276639

Gene: ASS1

Linked Data

• dbSNP Id: rs1846391482
• gnomAD v4: 9-130489390-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489391_130489392del , CM000671.2:g.130489391_130489392del	GRCh38
NC_000009.11:g.133364778_133364779del , CM000671.1:g.133364778_133364779del	GRCh37
NC_000009.10:g.132354599_132354600del	NCBI36
NG_011542.1:g.49685_49686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.897_898del MANE Select	ENSP00000253004.6:p.Phe300HisfsTer19
ENST00000352480.9:c.897_898del	ENSP00000253004.6:p.Phe300HisfsTer19
ENST00000372386.6:n.168_169del
ENST00000372393.7:c.897_898del	ENSP00000361469.2:p.Phe300HisfsTer19
ENST00000372394.5:c.897_898del	ENSP00000361471.1:p.Phe300HisfsTer19
ENST00000470849.4:n.622_623del
ENST00000492400.5:n.406_407del
ENST00000493984.6:n.674_675del
NM_000050.4:c.897_898del	NP_000041.2:p.Phe300HisfsTer19
NM_054012.3:c.897_898del	NP_446464.1:p.Phe300HisfsTer19
XM_005272200.2:c.897_898del	XP_005272257.1:p.Phe300HisfsTer19
XM_011518705.1:c.1011_1012del	XP_011517007.1:p.Phe338HisfsTer19
XM_005272200.3:c.897_898del	XP_005272257.1:p.Phe300HisfsTer19
XM_011518705.2:c.1011_1012del	XP_011517007.1:p.Phe338HisfsTer19
XM_017014729.1:c.993_994del	XP_016870218.1:p.Phe332HisfsTer19
NM_054012.4:c.897_898del MANE Select	NP_446464.1:p.Phe300HisfsTer19