Canonical Allele Identifier: CA1329210684

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420191_219420192delinsGC , CM000664.2:g.219420191_219420192delinsGC	GRCh38
NC_000002.11:g.220284913_220284914delinsGC , CM000664.1:g.220284913_220284914delinsGC	GRCh37
NC_000002.10:g.219993157_219993158delinsGC	NCBI36
NG_008043.1:g.6815_6816delinsGC , LRG_380:g.6815_6816delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.113+36_113+37delinsGC
ENST00000373960.4:c.639+36_639+37delinsGC MANE Select	ENSP00000363071.3:n.639+36_639+37delinsGC
ENST00000373960.3:c.639+36_639+37delinsGC	ENSP00000363071.3:n.639+36_639+37delinsGC
ENST00000477226.5:n.111+36_111+37delinsGC
ENST00000492726.1:n.34+36_34+37delinsGC
NM_001927.3:c.639+36_639+37delinsGC , LRG_380t1:c.639+36_639+37delinsGC	NP_001918.3:n.639+36_639+37delinsGC
NM_001927.4:c.639+36_639+37delinsGC MANE Select	NP_001918.3:n.639+36_639+37delinsGC
NM_001382708.1:c.636+39_636+40delinsGC	NP_001369637.1:n.636+39_636+40delinsGC
NM_001382709.1:c.639+36_639+37delinsGC	NP_001369638.1:n.639+36_639+37delinsGC
NM_001382710.1:c.639+36_639+37delinsGC	NP_001369639.1:n.639+36_639+37delinsGC
NM_001382711.1:c.639+36_639+37delinsGC	NP_001369640.1:n.639+36_639+37delinsGC
NM_001382712.1:c.639+36_639+37delinsGC	NP_001369641.1:n.639+36_639+37delinsGC
NM_001382713.1:c.496-334_496-333delinsGC	NP_001369642.1:n.496-334_496-333delinsGC