Canonical Allele Identifier: CA4354536

Gene: ASNS

Linked Data

• ClinVar Variation Id: 2780121
• ClinVar RCV Id: RCV003665526
• dbSNP Id: rs769360935
• ExAC: 7:97482647 CAAGT / C
• gnomAD v2: 7-97482647-CAAGT-C
• gnomAD v3: 7-97853335-CAAGT-C
• gnomAD v4: 7-97853335-CAAGT-C
• MyVariant Identifiers: chr7:g.97482648_97482651del (hg19) ; chr7:g.97853336_97853339del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.97853338_97853341del , CM000669.2:g.97853338_97853341del	GRCh38
NC_000007.13:g.97482650_97482653del , CM000669.1:g.97482650_97482653del	GRCh37
NC_000007.12:g.97320586_97320589del	NCBI36
NG_033870.1:g.24204_24207del
NG_033870.2:g.80224_80227del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394308.8:c.1286_1289del MANE Select	ENSP00000377845.3:p.Tyr429CysfsTer7
ENST00000175506.8:c.1286_1289del	ENSP00000175506.4:p.Tyr429CysfsTer7
ENST00000394308.7:c.1286_1289del	ENSP00000377845.3:p.Tyr429CysfsTer7
ENST00000394309.7:c.1286_1289del	ENSP00000377846.3:p.Tyr429CysfsTer7
ENST00000422745.5:c.1223_1226del	ENSP00000414901.1:p.Tyr408CysfsTer7
ENST00000437628.5:c.1037_1040del	ENSP00000414379.1:p.Tyr346CysfsTer7
ENST00000444334.5:c.1223_1226del	ENSP00000406994.1:p.Tyr408CysfsTer7
ENST00000454046.5:c.*154_*157del	ENSP00000401651.1:n.*154_*157del
ENST00000455086.5:c.1037_1040del	ENSP00000408472.1:p.Tyr346CysfsTer7
ENST00000487714.1:n.344_347del
NM_001178075.1:c.1223_1226del	NP_001171546.1:p.Tyr408CysfsTer7
NM_001178076.1:c.1037_1040del	NP_001171547.1:p.Tyr346CysfsTer7
NM_001178077.1:c.1037_1040del	NP_001171548.1:p.Tyr346CysfsTer7
NM_001673.4:c.1286_1289del	NP_001664.3:p.Tyr429CysfsTer7
NM_133436.3:c.1286_1289del	NP_597680.2:p.Tyr429CysfsTer7
NM_183356.3:c.1286_1289del	NP_899199.2:p.Tyr429CysfsTer7
NM_001352496.1:c.1286_1289del	NP_001339425.1:p.Tyr429CysfsTer7
NR_147989.1:n.2989_2992del
NM_001673.5:c.1286_1289del MANE Select	NP_001664.3:p.Tyr429CysfsTer7
NM_001178075.2:c.1223_1226del	NP_001171546.1:p.Tyr408CysfsTer7
NM_001178076.2:c.1037_1040del	NP_001171547.1:p.Tyr346CysfsTer7
NM_001352496.2:c.1286_1289del	NP_001339425.1:p.Tyr429CysfsTer7
NM_183356.4:c.1286_1289del	NP_899199.2:p.Tyr429CysfsTer7