Canonical Allele Identifier: CA1329211349

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421549_219421552delinsAGAG , CM000664.2:g.219421549_219421552delinsAGAG	GRCh38
NC_000002.11:g.220286271_220286274delinsAGAG , CM000664.1:g.220286271_220286274delinsAGAG	GRCh37
NC_000002.10:g.219994515_219994518delinsAGAG	NCBI36
NG_008043.1:g.8173_8176delinsAGAG , LRG_380:g.8173_8176delinsAGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.707_710delinsAGAG
ENST00000683013.1:n.621_624delinsAGAG
ENST00000373960.4:c.1233_1236delinsAGAG MANE Select	ENSP00000363071.3:p.Gly411=
ENST00000373960.3:c.1233_1236delinsAGAG	ENSP00000363071.3:p.Gly411=
ENST00000477226.5:n.705_708delinsAGAG
ENST00000492726.1:n.628_631delinsAGAG
NM_001927.3:c.1233_1236delinsAGAG , LRG_380t1:c.1233_1236delinsAGAG	NP_001918.3:p.Gly411=
NM_001927.4:c.1233_1236delinsAGAG MANE Select	NP_001918.3:p.Gly411=
NM_001382708.1:c.1230_1233delinsAGAG	NP_001369637.1:p.Gly410=
NM_001382709.1:c.801_804delinsAGAG	NP_001369638.1:p.Gly267=
NM_001382710.1:c.1164_1167delinsAGAG	NP_001369639.1:p.Gly388=
NM_001382711.1:c.1212_1215delinsAGAG	NP_001369640.1:p.Gly404=
NM_001382712.1:c.1233_1236delinsAGAG	NP_001369641.1:p.Gly411=
NM_001382713.1:c.963_966delinsAGAG	NP_001369642.1:p.Gly321=