Canonical Allele Identifier: CA2573135388

Gene: DES

Linked Data

• ClinVar Variation Id: 1332983
• ClinVar RCV Id: RCV002259401
• dbSNP Id: rs2125168811

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421474_219421476delinsTACCAGGACCTGCTG , CM000664.2:g.219421474_219421476delinsTACCAGGACCTGCTG	GRCh38
NC_000002.11:g.220286196_220286198delinsTACCAGGACCTGCTG , CM000664.1:g.220286196_220286198delinsTACCAGGACCTGCTG	GRCh37
NC_000002.10:g.219994440_219994442delinsTACCAGGACCTGCTG	NCBI36
NG_008043.1:g.8098_8100delinsTACCAGGACCTGCTG , LRG_380:g.8098_8100delinsTACCAGGACCTGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.632_634delinsTACCAGGACCTGCTG
ENST00000683013.1:n.546_548delinsTACCAGGACCTGCTG
ENST00000373960.4:c.1158_1160delinsTACCAGGACCTGCTG MANE Select	ENSP00000363071.3:p.Glu387delinsThrArgThrCysTrp
ENST00000373960.3:c.1158_1160delinsTACCAGGACCTGCTG	ENSP00000363071.3:p.Glu387delinsThrArgThrCysTrp
ENST00000477226.5:n.630_632delinsTACCAGGACCTGCTG
ENST00000492726.1:n.553_555delinsTACCAGGACCTGCTG
NM_001927.3:c.1158_1160delinsTACCAGGACCTGCTG , LRG_380t1:c.1158_1160delinsTACCAGGACCTGCTG	NP_001918.3:p.Glu387delinsThrArgThrCysTrp
NM_001927.4:c.1158_1160delinsTACCAGGACCTGCTG MANE Select	NP_001918.3:p.Glu387delinsThrArgThrCysTrp
NM_001382708.1:c.1155_1157delinsTACCAGGACCTGCTG	NP_001369637.1:p.Glu386delinsThrArgThrCysTrp
NM_001382709.1:c.736-10_736-8delinsTACCAGGACCTGCTG	NP_001369638.1:n.736-10_736-8delinsTACCAGGACCTGCTG
NM_001382710.1:c.1089_1091delinsTACCAGGACCTGCTG	NP_001369639.1:p.Glu364delinsThrArgThrCysTrp
NM_001382711.1:c.1137_1139delinsTACCAGGACCTGCTG	NP_001369640.1:p.Glu380delinsThrArgThrCysTrp
NM_001382712.1:c.1158_1160delinsTACCAGGACCTGCTG	NP_001369641.1:p.Glu387delinsThrArgThrCysTrp
NM_001382713.1:c.888_890delinsTACCAGGACCTGCTG	NP_001369642.1:p.Glu297delinsThrArgThrCysTrp