Canonical Allele Identifier: CA2499219679

Gene: ASS1

Linked Data

• ClinVar Variation Id: 1210356
• ClinVar RCV Id: RCV001580631
• dbSNP Id: rs2118841816

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480441_130480442del , CM000671.2:g.130480441_130480442del	GRCh38
NC_000009.11:g.133355828_133355829del , CM000671.1:g.133355828_133355829del	GRCh37
NC_000009.10:g.132345649_132345650del	NCBI36
NG_011542.1:g.40735_40736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.830_831del MANE Select	ENSP00000253004.6:p.Lys277IlefsTer?
ENST00000352480.9:c.830_831del	ENSP00000253004.6:p.Lys277IlefsTer?
ENST00000372386.6:n.101_102del
ENST00000372393.7:c.830_831del	ENSP00000361469.2:p.Lys277IlefsTer?
ENST00000372394.5:c.830_831del	ENSP00000361471.1:p.Lys277IlefsTer?
ENST00000470849.4:n.555_556del
ENST00000492400.5:n.339_340del
ENST00000493984.6:n.607_608del
NM_000050.4:c.830_831del	NP_000041.2:p.Lys277IlefsTer?
NM_054012.3:c.830_831del	NP_446464.1:p.Lys277IlefsTer?
XM_005272200.2:c.830_831del	XP_005272257.1:p.Lys277IlefsTer?
XM_011518705.1:c.944_945del	XP_011517007.1:p.Lys315IlefsTer?
XM_005272200.3:c.830_831del	XP_005272257.1:p.Lys277IlefsTer?
XM_011518705.2:c.944_945del	XP_011517007.1:p.Lys315IlefsTer?
XM_017014729.1:c.926_927del	XP_016870218.1:p.Lys309IlefsTer?
NM_054012.4:c.830_831del MANE Select	NP_446464.1:p.Lys277IlefsTer?