Canonical Allele Identifier: CA1329211354

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421557_219421558delinsGC , CM000664.2:g.219421557_219421558delinsGC	GRCh38
NC_000002.11:g.220286279_220286280delinsGC , CM000664.1:g.220286279_220286280delinsGC	GRCh37
NC_000002.10:g.219994523_219994524delinsGC	NCBI36
NG_008043.1:g.8181_8182delinsGC , LRG_380:g.8181_8182delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.715_716delinsGC
ENST00000683013.1:n.629_630delinsGC
ENST00000373960.4:c.1241_1242delinsGC MANE Select	ENSP00000363071.3:p.Ser414=
ENST00000373960.3:c.1241_1242delinsGC	ENSP00000363071.3:p.Ser414=
ENST00000477226.5:n.713_714delinsGC
ENST00000492726.1:n.636_637delinsGC
NM_001927.3:c.1241_1242delinsGC , LRG_380t1:c.1241_1242delinsGC	NP_001918.3:p.Ser414=
NM_001927.4:c.1241_1242delinsGC MANE Select	NP_001918.3:p.Ser414=
NM_001382708.1:c.1238_1239delinsGC	NP_001369637.1:p.Ser413=
NM_001382709.1:c.809_810delinsGC	NP_001369638.1:p.Ser270=
NM_001382710.1:c.1172_1173delinsGC	NP_001369639.1:p.Ser391=
NM_001382711.1:c.1220_1221delinsGC	NP_001369640.1:p.Ser407=
NM_001382712.1:c.1241_1242delinsGC	NP_001369641.1:p.Ser414=
NM_001382713.1:c.971_972delinsGC	NP_001369642.1:p.Ser324=