Canonical Allele Identifier: CA913142384

Gene: ASS1

Linked Data

• MyVariant Identifiers: chr9:g.133364829_133364830del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489442_130489443del , CM000671.2:g.130489442_130489443del	GRCh38
NC_000009.11:g.133364829_133364830del , CM000671.1:g.133364829_133364830del	GRCh37
NC_000009.10:g.132354650_132354651del	NCBI36
NG_011542.1:g.49736_49737del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.948_949del MANE Select	ENSP00000253004.6:p.Lys316AsnfsTer3
ENST00000352480.9:c.948_949del	ENSP00000253004.6:p.Lys316AsnfsTer3
ENST00000372386.6:n.219_220del
ENST00000372393.7:c.948_949del	ENSP00000361469.2:p.Lys316AsnfsTer3
ENST00000372394.5:c.948_949del	ENSP00000361471.1:p.Lys316AsnfsTer3
NM_000050.4:c.948_949del	NP_000041.2:p.Lys316AsnfsTer3
NM_054012.3:c.948_949del	NP_446464.1:p.Lys316AsnfsTer3
XM_005272200.2:c.948_949del	XP_005272257.1:p.Lys316AsnfsTer3
XM_011518705.1:c.1062_1063del	XP_011517007.1:p.Lys354AsnfsTer3
XM_005272200.3:c.948_949del	XP_005272257.1:p.Lys316AsnfsTer3
XM_011518705.2:c.1062_1063del	XP_011517007.1:p.Lys354AsnfsTer3
XM_017014729.1:c.1044_1045del	XP_016870218.1:p.Lys348AsnfsTer3
NM_054012.4:c.948_949del MANE Select	NP_446464.1:p.Lys316AsnfsTer3