Canonical Allele Identifier: CA5283536

Gene: ASS1

Linked Data

• ClinVar Variation Id: 1034022
• ClinVar RCV Id: RCV001387396 ; RCV003462905
• dbSNP Id: rs759483921
• ExAC: 9:133355808 G / GA
• gnomAD v2: 9-133355808-G-GA
• gnomAD v3: 9-130480421-G-GA
• gnomAD v4: 9-130480421-G-GA
• MyVariant Identifiers: chr9:g.133355808_133355809insA (hg19) ; chr9:g.130480421_130480422insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480423dup , CM000671.2:g.130480423dup	GRCh38
NC_000009.11:g.133355810dup , CM000671.1:g.133355810dup	GRCh37
NC_000009.10:g.132345631dup	NCBI36
NG_011542.1:g.40717dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.812dup MANE Select	ENSP00000253004.6:p.Asn271LysfsTer?
ENST00000352480.9:c.812dup	ENSP00000253004.6:p.Asn271LysfsTer?
ENST00000372386.6:n.83dup
ENST00000372393.7:c.812dup	ENSP00000361469.2:p.Asn271LysfsTer?
ENST00000372394.5:c.812dup	ENSP00000361471.1:p.Asn271LysfsTer?
ENST00000470849.4:n.537dup
ENST00000492400.5:n.321dup
ENST00000493984.6:n.589dup
NM_000050.4:c.812dup	NP_000041.2:p.Asn271LysfsTer?
NM_054012.3:c.812dup	NP_446464.1:p.Asn271LysfsTer?
XM_005272200.2:c.812dup	XP_005272257.1:p.Asn271LysfsTer?
XM_011518705.1:c.926dup	XP_011517007.1:p.Asn309LysfsTer?
XM_005272200.3:c.812dup	XP_005272257.1:p.Asn271LysfsTer?
XM_011518705.2:c.926dup	XP_011517007.1:p.Asn309LysfsTer?
XM_017014729.1:c.908dup	XP_016870218.1:p.Asn303LysfsTer?
NM_054012.4:c.812dup MANE Select	NP_446464.1:p.Asn271LysfsTer?