Canonical Allele Identifier: CA2695199422

Gene: ASS1

Linked Data

• ClinVar Variation Id: 2678957
• ClinVar RCV Id: RCV003472933

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489401del , CM000671.2:g.130489401del	GRCh38
NC_000009.11:g.133364788del , CM000671.1:g.133364788del	GRCh37
NC_000009.10:g.132354609del	NCBI36
NG_011542.1:g.49695del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.907del MANE Select	ENSP00000253004.6:p.Asp303ThrfsTer13
ENST00000352480.9:c.907del	ENSP00000253004.6:p.Asp303ThrfsTer13
ENST00000372386.6:n.178del
ENST00000372393.7:c.907del	ENSP00000361469.2:p.Asp303ThrfsTer13
ENST00000372394.5:c.907del	ENSP00000361471.1:p.Asp303ThrfsTer13
ENST00000470849.4:n.632del
ENST00000492400.5:n.416del
ENST00000493984.6:n.684del
NM_000050.4:c.907del	NP_000041.2:p.Asp303ThrfsTer13
NM_054012.3:c.907del	NP_446464.1:p.Asp303ThrfsTer13
XM_005272200.2:c.907del	XP_005272257.1:p.Asp303ThrfsTer13
XM_011518705.1:c.1021del	XP_011517007.1:p.Asp341ThrfsTer13
XM_005272200.3:c.907del	XP_005272257.1:p.Asp303ThrfsTer13
XM_011518705.2:c.1021del	XP_011517007.1:p.Asp341ThrfsTer13
XM_017014729.1:c.1003del	XP_016870218.1:p.Asp335ThrfsTer13
NM_054012.4:c.907del MANE Select	NP_446464.1:p.Asp303ThrfsTer13