Canonical Allele Identifier: CA1329213204

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425902_219425903delinsAT , CM000664.2:g.219425902_219425903delinsAT	GRCh38
NC_000002.11:g.220290624_220290625delinsAT , CM000664.1:g.220290624_220290625delinsAT	GRCh37
NC_000002.10:g.219998868_219998869delinsAT	NCBI36
NG_008043.1:g.12526_12527delinsAT , LRG_380:g.12526_12527delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.846-47_846-46delinsAT
ENST00000683013.1:n.760-47_760-46delinsAT
ENST00000373960.4:c.1372-47_1372-46delinsAT MANE Select	ENSP00000363071.3:n.1372-47_1372-46delinsAT
ENST00000373960.3:c.1372-47_1372-46delinsAT	ENSP00000363071.3:n.1372-47_1372-46delinsAT
ENST00000483395.1:n.227-47_227-46delinsAT
NM_001927.3:c.1372-47_1372-46delinsAT , LRG_380t1:c.1372-47_1372-46delinsAT	NP_001918.3:n.1372-47_1372-46delinsAT
NM_001927.4:c.1372-47_1372-46delinsAT MANE Select	NP_001918.3:n.1372-47_1372-46delinsAT
NM_001382708.1:c.1369-47_1369-46delinsAT	NP_001369637.1:n.1369-47_1369-46delinsAT
NM_001382709.1:c.940-47_940-46delinsAT	NP_001369638.1:n.940-47_940-46delinsAT
NM_001382710.1:c.1303-47_1303-46delinsAT	NP_001369639.1:n.1303-47_1303-46delinsAT
NM_001382711.1:c.1351-47_1351-46delinsAT	NP_001369640.1:n.1351-47_1351-46delinsAT
NM_001382712.1:c.1371+157_1371+158delinsAT	NP_001369641.1:n.1371+157_1371+158delinsAT
NM_001382713.1:c.1102-47_1102-46delinsAT	NP_001369642.1:n.1102-47_1102-46delinsAT