Canonical Allele Identifier: CA1329211136

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421136_219421137delinsCT , CM000664.2:g.219421136_219421137delinsCT	GRCh38
NC_000002.11:g.220285858_220285859delinsCT , CM000664.1:g.220285858_220285859delinsCT	GRCh37
NC_000002.10:g.219994102_219994103delinsCT	NCBI36
NG_008043.1:g.7760_7761delinsCT , LRG_380:g.7760_7761delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.497+183_497+184delinsCT
ENST00000683013.1:n.411+183_411+184delinsCT
ENST00000373960.4:c.1023+183_1023+184delinsCT MANE Select	ENSP00000363071.3:n.1023+183_1023+184delinsCT
ENST00000373960.3:c.1023+183_1023+184delinsCT	ENSP00000363071.3:n.1023+183_1023+184delinsCT
ENST00000477226.5:n.495+183_495+184delinsCT
ENST00000492726.1:n.418+183_418+184delinsCT
NM_001927.3:c.1023+183_1023+184delinsCT , LRG_380t1:c.1023+183_1023+184delinsCT	NP_001918.3:n.1023+183_1023+184delinsCT
NM_001927.4:c.1023+183_1023+184delinsCT MANE Select	NP_001918.3:n.1023+183_1023+184delinsCT
NM_001382708.1:c.1020+183_1020+184delinsCT	NP_001369637.1:n.1020+183_1020+184delinsCT
NM_001382709.1:c.736-348_736-347delinsCT	NP_001369638.1:n.736-348_736-347delinsCT
NM_001382710.1:c.1023+183_1023+184delinsCT	NP_001369639.1:n.1023+183_1023+184delinsCT
NM_001382711.1:c.1023+183_1023+184delinsCT	NP_001369640.1:n.1023+183_1023+184delinsCT
NM_001382712.1:c.1023+183_1023+184delinsCT	NP_001369641.1:n.1023+183_1023+184delinsCT
NM_001382713.1:c.753+183_753+184delinsCT	NP_001369642.1:n.753+183_753+184delinsCT