Canonical Allele Identifier: CA2843174822

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425975_219425977del , CM000664.2:g.219425975_219425977del	GRCh38
NC_000002.11:g.220290697_220290699del , CM000664.1:g.220290697_220290699del	GRCh37
NC_000002.10:g.219998941_219998943del	NCBI36
NG_008043.1:g.12599_12601del , LRG_380:g.12599_12601del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.872_874del
ENST00000683013.1:n.786_788del
ENST00000373960.4:c.1398_1400del MANE Select	ENSP00000363071.3:p.Gln466del
ENST00000373960.3:c.1398_1400del	ENSP00000363071.3:p.Gln466del
ENST00000483395.1:n.253_255del
NM_001927.3:c.1398_1400del , LRG_380t1:c.1398_1400del	NP_001918.3:p.Gln466del
NM_001927.4:c.1398_1400del MANE Select	NP_001918.3:p.Gln466del
NM_001382708.1:c.1395_1397del	NP_001369637.1:p.Gln465del
NM_001382709.1:c.966_968del	NP_001369638.1:p.Gln322del
NM_001382710.1:c.1329_1331del	NP_001369639.1:p.Gln443del
NM_001382711.1:c.1377_1379del	NP_001369640.1:p.Gln459del
NM_001382712.1:c.1371+230_1371+232del	NP_001369641.1:n.1371+230_1371+232del
NM_001382713.1:c.1128_1130del	NP_001369642.1:p.Gln376del