Canonical Allele Identifier: CA1329213232

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425962_219425963delinsCC , CM000664.2:g.219425962_219425963delinsCC	GRCh38
NC_000002.11:g.220290684_220290685delinsCC , CM000664.1:g.220290684_220290685delinsCC	GRCh37
NC_000002.10:g.219998928_219998929delinsCC	NCBI36
NG_008043.1:g.12586_12587delinsCC , LRG_380:g.12586_12587delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.859_860delinsCC
ENST00000683013.1:n.773_774delinsCC
ENST00000373960.4:c.1385_1386delinsCC MANE Select	ENSP00000363071.3:p.Ala462=
ENST00000373960.3:c.1385_1386delinsCC	ENSP00000363071.3:p.Ala462=
ENST00000483395.1:n.240_241delinsCC
NM_001927.3:c.1385_1386delinsCC , LRG_380t1:c.1385_1386delinsCC	NP_001918.3:p.Ala462=
NM_001927.4:c.1385_1386delinsCC MANE Select	NP_001918.3:p.Ala462=
NM_001382708.1:c.1382_1383delinsCC	NP_001369637.1:p.Ala461=
NM_001382709.1:c.953_954delinsCC	NP_001369638.1:p.Ala318=
NM_001382710.1:c.1316_1317delinsCC	NP_001369639.1:p.Ala439=
NM_001382711.1:c.1364_1365delinsCC	NP_001369640.1:p.Ala455=
NM_001382712.1:c.1371+217_1371+218delinsCC	NP_001369641.1:n.1371+217_1371+218delinsCC
NM_001382713.1:c.1115_1116delinsCC	NP_001369642.1:p.Ala372=