Canonical Allele Identifier: CA2580079837

Gene: ASS1

Linked Data

• ClinVar Variation Id: 2016975
• ClinVar RCV Id: RCV002834968

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130480472_130480483del , CM000671.2:g.130480472_130480483del	GRCh38
NC_000009.11:g.133355859_133355870del , CM000671.1:g.133355859_133355870del	GRCh37
NC_000009.10:g.132345680_132345691del	NCBI36
NG_011542.1:g.40766_40777del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.838+23_838+34del MANE Select	ENSP00000253004.6:n.838+23_838+34del
ENST00000352480.9:c.838+23_838+34del	ENSP00000253004.6:n.838+23_838+34del
ENST00000372386.6:n.109+23_109+34del
ENST00000372393.7:c.838+23_838+34del	ENSP00000361469.2:n.838+23_838+34del
ENST00000372394.5:c.838+23_838+34del	ENSP00000361471.1:n.838+23_838+34del
ENST00000470849.4:n.563+23_563+34del
ENST00000492400.5:n.347+23_347+34del
ENST00000493984.6:n.615+23_615+34del
NM_000050.4:c.838+23_838+34del	NP_000041.2:n.838+23_838+34del
NM_054012.3:c.838+23_838+34del	NP_446464.1:n.838+23_838+34del
XM_005272200.2:c.838+23_838+34del	XP_005272257.1:n.838+23_838+34del
XM_011518705.1:c.952+23_952+34del	XP_011517007.1:n.952+23_952+34del
XM_005272200.3:c.838+23_838+34del	XP_005272257.1:n.838+23_838+34del
XM_011518705.2:c.952+23_952+34del	XP_011517007.1:n.952+23_952+34del
XM_017014729.1:c.934+23_934+34del	XP_016870218.1:n.934+23_934+34del
NM_054012.4:c.838+23_838+34del MANE Select	NP_446464.1:n.838+23_838+34del