Canonical Allele Identifier: CA590701236

Gene: ASS1

Linked Data

• dbSNP Id: rs374255376
• gnomAD v2: 9-133364632-A-ATT
• gnomAD v3: 9-130489245-A-ATT
• gnomAD v4: 9-130489245-A-ATT
• MyVariant Identifiers: chr9:g.133364633_133364634insTT (hg19) ; chr9:g.133364632_133364633insTT (hg19) ; chr9:g.130489246_130489247insTT (hg38) ; chr9:g.130489245_130489246insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489255_130489256dup , CM000671.2:g.130489255_130489256dup	GRCh38
NC_000009.11:g.133364642_133364643dup , CM000671.1:g.133364642_133364643dup	GRCh37
NC_000009.10:g.132354463_132354464dup	NCBI36
NG_011542.1:g.49549_49550dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.839-78_839-77dup MANE Select	ENSP00000253004.6:n.839-78_839-77dup
ENST00000352480.9:c.839-78_839-77dup	ENSP00000253004.6:n.839-78_839-77dup
ENST00000372386.6:n.110-78_110-77dup
ENST00000372393.7:c.839-78_839-77dup	ENSP00000361469.2:n.839-78_839-77dup
ENST00000372394.5:c.839-78_839-77dup	ENSP00000361471.1:n.839-78_839-77dup
ENST00000470849.4:n.564-78_564-77dup
ENST00000492400.5:n.348-78_348-77dup
ENST00000493984.6:n.616-78_616-77dup
NM_000050.4:c.839-78_839-77dup	NP_000041.2:n.839-78_839-77dup
NM_054012.3:c.839-78_839-77dup	NP_446464.1:n.839-78_839-77dup
XM_005272200.2:c.839-78_839-77dup	XP_005272257.1:n.839-78_839-77dup
XM_011518705.1:c.953-78_953-77dup	XP_011517007.1:n.953-78_953-77dup
XM_005272200.3:c.839-78_839-77dup	XP_005272257.1:n.839-78_839-77dup
XM_011518705.2:c.953-78_953-77dup	XP_011517007.1:n.953-78_953-77dup
XM_017014729.1:c.935-78_935-77dup	XP_016870218.1:n.935-78_935-77dup
NM_054012.4:c.839-78_839-77dup MANE Select	NP_446464.1:n.839-78_839-77dup