Canonical Allele Identifier: CA16610673

Gene: DES

Linked Data

• ClinVar Variation Id: 411144
• ClinVar RCV Id: RCV000471643 ; RCV001770353
• dbSNP Id: rs1060503170

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425962_219425963delinsAG , CM000664.2:g.219425962_219425963delinsAG	GRCh38
NC_000002.11:g.220290684_220290685delinsAG , CM000664.1:g.220290684_220290685delinsAG	GRCh37
NC_000002.10:g.219998928_219998929delinsAG	NCBI36
NG_008043.1:g.12586_12587delinsAG , LRG_380:g.12586_12587delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.859_860delinsAG
ENST00000683013.1:n.773_774delinsAG
ENST00000373960.4:c.1385_1386delinsAG MANE Select	ENSP00000363071.3:p.Ala462Glu
ENST00000373960.3:c.1385_1386delinsAG	ENSP00000363071.3:p.Ala462Glu
ENST00000483395.1:n.240_241delinsAG
NM_001927.3:c.1385_1386delinsAG , LRG_380t1:c.1385_1386delinsAG	NP_001918.3:p.Ala462Glu
NM_001927.4:c.1385_1386delinsAG MANE Select	NP_001918.3:p.Ala462Glu
NM_001382708.1:c.1382_1383delinsAG	NP_001369637.1:p.Ala461Glu
NM_001382709.1:c.953_954delinsAG	NP_001369638.1:p.Ala318Glu
NM_001382710.1:c.1316_1317delinsAG	NP_001369639.1:p.Ala439Glu
NM_001382711.1:c.1364_1365delinsAG	NP_001369640.1:p.Ala455Glu
NM_001382712.1:c.1371+217_1371+218delinsAG	NP_001369641.1:n.1371+217_1371+218delinsAG
NM_001382713.1:c.1115_1116delinsAG	NP_001369642.1:p.Ala372Glu