Canonical Allele Identifier: CA2663250413

Gene: DES

Linked Data

• gnomAD v4: 2-219421346-T-TCCCTGATGAGGCAGATG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421348_219421364dup , CM000664.2:g.219421348_219421364dup	GRCh38
NC_000002.11:g.220286070_220286086dup , CM000664.1:g.220286070_220286086dup	GRCh37
NC_000002.10:g.219994314_219994330dup	NCBI36
NG_008043.1:g.7972_7988dup , LRG_380:g.7972_7988dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.506_522dup
ENST00000683013.1:n.420_436dup
ENST00000373960.4:c.1032_1048dup MANE Select	ENSP00000363071.3:p.Arg350ProfsTer2
ENST00000373960.3:c.1032_1048dup	ENSP00000363071.3:p.Arg350ProfsTer2
ENST00000477226.5:n.504_520dup
ENST00000492726.1:n.427_443dup
NM_001927.3:c.1032_1048dup , LRG_380t1:c.1032_1048dup	NP_001918.3:p.Arg350ProfsTer2
NM_001927.4:c.1032_1048dup MANE Select	NP_001918.3:p.Arg350ProfsTer2
NM_001382708.1:c.1029_1045dup	NP_001369637.1:p.Arg349ProfsTer2
NM_001382709.1:c.736-136_736-120dup	NP_001369638.1:n.736-136_736-120dup
NM_001382710.1:c.1024-61_1024-45dup	NP_001369639.1:n.1024-61_1024-45dup
NM_001382711.1:c.1024-13_1027dup
NM_001382712.1:c.1032_1048dup	NP_001369641.1:p.Arg350ProfsTer2
NM_001382713.1:c.762_778dup	NP_001369642.1:p.Arg260ProfsTer2