Canonical Allele Identifier: CA2697557435

Gene: ASNS

Linked Data

• ClinVar Variation Id: 2747596
• ClinVar RCV Id: RCV003570535

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.97853061del , CM000669.2:g.97853061del	GRCh38
NC_000007.13:g.97482373del , CM000669.1:g.97482373del	GRCh37
NC_000007.12:g.97320309del	NCBI36
NG_033870.1:g.24482del
NG_033870.2:g.80502del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394308.8:c.1475del MANE Select	ENSP00000377845.3:p.Gln492ArgfsTer6
ENST00000175506.8:c.1475del	ENSP00000175506.4:p.Gln492ArgfsTer6
ENST00000394308.7:c.1475del	ENSP00000377845.3:p.Gln492ArgfsTer6
ENST00000394309.7:c.1475del	ENSP00000377846.3:p.Gln492ArgfsTer6
ENST00000422745.5:c.1412del	ENSP00000414901.1:p.Gln471ArgfsTer6
ENST00000437628.5:c.1226del	ENSP00000414379.1:p.Gln409ArgfsTer6
ENST00000444334.5:c.1412del	ENSP00000406994.1:p.Gln471ArgfsTer6
ENST00000454046.5:c.*343del	ENSP00000401651.1:n.*343del
ENST00000455086.5:c.1226del	ENSP00000408472.1:p.Gln409ArgfsTer6
ENST00000487714.1:n.533del
NM_001178075.1:c.1412del	NP_001171546.1:p.Gln471ArgfsTer6
NM_001178076.1:c.1226del	NP_001171547.1:p.Gln409ArgfsTer6
NM_001178077.1:c.1226del	NP_001171548.1:p.Gln409ArgfsTer6
NM_001673.4:c.1475del	NP_001664.3:p.Gln492ArgfsTer6
NM_133436.3:c.1475del	NP_597680.2:p.Gln492ArgfsTer6
NM_183356.3:c.1475del	NP_899199.2:p.Gln492ArgfsTer6
NM_001352496.1:c.1475del	NP_001339425.1:p.Gln492ArgfsTer6
NR_147989.1:n.3178del
NM_001673.5:c.1475del MANE Select	NP_001664.3:p.Gln492ArgfsTer6
NM_001178075.2:c.1412del	NP_001171546.1:p.Gln471ArgfsTer6
NM_001178076.2:c.1226del	NP_001171547.1:p.Gln409ArgfsTer6
NM_001352496.2:c.1475del	NP_001339425.1:p.Gln492ArgfsTer6
NM_183356.4:c.1475del	NP_899199.2:p.Gln492ArgfsTer6