Canonical Allele Identifier: CA217063

Gene: DES

Linked Data

• ClinVar Variation Id: 66409
• ClinVar RCV Id: RCV000056797
• dbSNP Id: rs267607497
• MyVariant Identifiers: chr2:g.220283522_220283523del (hg19) ; chr2:g.219418800_219418801del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418800_219418801del , CM000664.2:g.219418800_219418801del	GRCh38
NC_000002.11:g.220283522_220283523del , CM000664.1:g.220283522_220283523del	GRCh37
NC_000002.10:g.219991766_219991767del	NCBI36
NG_008043.1:g.5424_5425del , LRG_380:g.5424_5425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.338_339del MANE Select	ENSP00000363071.3:p.Gln113ArgfsTer4
ENST00000373960.3:c.338_339del	ENSP00000363071.3:p.Gln113ArgfsTer4
NM_001927.3:c.338_339del , LRG_380t1:c.338_339del	NP_001918.3:p.Gln113ArgfsTer4
NM_001927.4:c.338_339del MANE Select	NP_001918.3:p.Gln113ArgfsTer4
NM_001382708.1:c.338_339del	NP_001369637.1:p.Gln113ArgfsTer4
NM_001382709.1:c.338_339del	NP_001369638.1:p.Gln113ArgfsTer4
NM_001382710.1:c.338_339del	NP_001369639.1:p.Gln113ArgfsTer4
NM_001382711.1:c.338_339del	NP_001369640.1:p.Gln113ArgfsTer4
NM_001382712.1:c.338_339del	NP_001369641.1:p.Gln113ArgfsTer4
NM_001382713.1:c.338_339del	NP_001369642.1:p.Gln113ArgfsTer4