Canonical Allele Identifier: CA5283439

Gene: ASS1

Linked Data

• dbSNP Id: rs749141702
• ExAC: 9:133355099 C / CT
• gnomAD v2: 9-133355099-C-CT
• gnomAD v4: 9-130479712-C-CT
• MyVariant Identifiers: chr9:g.133355099_133355100insT (hg19) ; chr9:g.130479712_130479713insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130479713dup , CM000671.2:g.130479713dup	GRCh38
NC_000009.11:g.133355100dup , CM000671.1:g.133355100dup	GRCh37
NC_000009.10:g.132344921dup	NCBI36
NG_011542.1:g.40007dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.689-3dup MANE Select	ENSP00000253004.6:n.689-3dup
ENST00000352480.9:c.689-3dup	ENSP00000253004.6:n.689-3dup
ENST00000372393.7:c.689-3dup	ENSP00000361469.2:n.689-3dup
ENST00000372394.5:c.689-3dup	ENSP00000361471.1:n.689-3dup
ENST00000467695.5:n.398-3dup
ENST00000470849.4:n.414-3dup
ENST00000492400.5:n.198-3dup
ENST00000493984.6:n.513-50dup
NM_000050.4:c.689-3dup	NP_000041.2:n.689-3dup
NM_054012.3:c.689-3dup	NP_446464.1:n.689-3dup
XM_005272200.2:c.689-3dup	XP_005272257.1:n.689-3dup
XM_011518705.1:c.803-3dup	XP_011517007.1:n.803-3dup
XM_005272200.3:c.689-3dup	XP_005272257.1:n.689-3dup
XM_011518705.2:c.803-3dup	XP_011517007.1:n.803-3dup
XM_017014729.1:c.785-3dup	XP_016870218.1:n.785-3dup
NM_054012.4:c.689-3dup MANE Select	NP_446464.1:n.689-3dup