Canonical Allele Identifier: CA1329211257

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421384_219421393delinsTGCCAGTGAG , CM000664.2:g.219421384_219421393delinsTGCCAGTGAG	GRCh38
NC_000002.11:g.220286106_220286115delinsTGCCAGTGAG , CM000664.1:g.220286106_220286115delinsTGCCAGTGAG	GRCh37
NC_000002.10:g.219994350_219994359delinsTGCCAGTGAG	NCBI36
NG_008043.1:g.8008_8017delinsTGCCAGTGAG , LRG_380:g.8008_8017delinsTGCCAGTGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.542_551delinsTGCCAGTGAG
ENST00000683013.1:n.456_465delinsTGCCAGTGAG
ENST00000373960.4:c.1068_1077delinsTGCCAGTGAG MANE Select	ENSP00000363071.3:p.Phe356=
ENST00000373960.3:c.1068_1077delinsTGCCAGTGAG	ENSP00000363071.3:p.Phe356=
ENST00000477226.5:n.540_549delinsTGCCAGTGAG
ENST00000492726.1:n.463_472delinsTGCCAGTGAG
NM_001927.3:c.1068_1077delinsTGCCAGTGAG , LRG_380t1:c.1068_1077delinsTGCCAGTGAG	NP_001918.3:p.Phe356=
NM_001927.4:c.1068_1077delinsTGCCAGTGAG MANE Select	NP_001918.3:p.Phe356=
NM_001382708.1:c.1065_1074delinsTGCCAGTGAG	NP_001369637.1:p.Phe355=
NM_001382709.1:c.736-100_736-91delinsTGCCAGTGAG	NP_001369638.1:n.736-100_736-91delinsTGCCAGTGAG
NM_001382710.1:c.1024-25_1024-16delinsTGCCAGTGAG	NP_001369639.1:n.1024-25_1024-16delinsTGCCAGTGAG
NM_001382711.1:c.1047_1056delinsTGCCAGTGAG	NP_001369640.1:p.Phe349=
NM_001382712.1:c.1068_1077delinsTGCCAGTGAG	NP_001369641.1:p.Phe356=
NM_001382713.1:c.798_807delinsTGCCAGTGAG	NP_001369642.1:p.Phe266=