Canonical Allele Identifier: CA200588284

Gene: ASS1

Linked Data

• dbSNP Id: rs929162069
• gnomAD v2: 9-133364634-T-TA
• gnomAD v3: 9-130489247-T-TA
• gnomAD v4: 9-130489247-T-TA
• MyVariant Identifiers: chr9:g.133364634_133364635insA (hg19) ; chr9:g.130489247_130489248insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489247_130489248insA , CM000671.2:g.130489247_130489248insA	GRCh38
NC_000009.11:g.133364634_133364635insA , CM000671.1:g.133364634_133364635insA	GRCh37
NC_000009.10:g.132354455_132354456insA	NCBI36
NG_011542.1:g.49541_49542insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.839-86_839-85insA MANE Select	ENSP00000253004.6:n.839-86_839-85insA
ENST00000352480.9:c.839-86_839-85insA	ENSP00000253004.6:n.839-86_839-85insA
ENST00000372386.6:n.110-86_110-85insA
ENST00000372393.7:c.839-86_839-85insA	ENSP00000361469.2:n.839-86_839-85insA
ENST00000372394.5:c.839-86_839-85insA	ENSP00000361471.1:n.839-86_839-85insA
ENST00000470849.4:n.564-86_564-85insA
ENST00000492400.5:n.348-86_348-85insA
ENST00000493984.6:n.616-86_616-85insA
NM_000050.4:c.839-86_839-85insA	NP_000041.2:n.839-86_839-85insA
NM_054012.3:c.839-86_839-85insA	NP_446464.1:n.839-86_839-85insA
XM_005272200.2:c.839-86_839-85insA	XP_005272257.1:n.839-86_839-85insA
XM_011518705.1:c.953-86_953-85insA	XP_011517007.1:n.953-86_953-85insA
XM_005272200.3:c.839-86_839-85insA	XP_005272257.1:n.839-86_839-85insA
XM_011518705.2:c.953-86_953-85insA	XP_011517007.1:n.953-86_953-85insA
XM_017014729.1:c.935-86_935-85insA	XP_016870218.1:n.935-86_935-85insA
NM_054012.4:c.839-86_839-85insA MANE Select	NP_446464.1:n.839-86_839-85insA