Canonical Allele Identifier: CA1329209752

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418407_219418418delinsGGCCGCCTGCCC , CM000664.2:g.219418407_219418418delinsGGCCGCCTGCCC	GRCh38
NC_000002.11:g.220283129_220283140delinsGGCCGCCTGCCC , CM000664.1:g.220283129_220283140delinsGGCCGCCTGCCC	GRCh37
NC_000002.10:g.219991373_219991384delinsGGCCGCCTGCCC	NCBI36
NG_008043.1:g.5031_5042delinsGGCCGCCTGCCC , LRG_380:g.5031_5042delinsGGCCGCCTGCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000373960.4:c.-56_-45delinsGGCCGCCTGCCC MANE Select	ENSP00000363071.3:n.-56_-45delinsGGCCGCCT...
ENST00000373960.3:c.-56_-45delinsGGCCGCCTGCCC	ENSP00000363071.3:n.-56_-45delinsGGCCGCCT...
NM_001927.3:c.-56_-45delinsGGCCGCCTGCCC , LRG_380t1:c.-56_-45delinsGGCCGCCTGCCC	NP_001918.3:n.-56_-45delinsGGCCGCCTGCCC
NM_001927.4:c.-56_-45delinsGGCCGCCTGCCC MANE Select	NP_001918.3:n.-56_-45delinsGGCCGCCTGCCC
NM_001382708.1:c.-56_-45delinsGGCCGCCTGCCC	NP_001369637.1:n.-56_-45delinsGGCCGCCTGCC...
NM_001382709.1:c.-56_-45delinsGGCCGCCTGCCC	NP_001369638.1:n.-56_-45delinsGGCCGCCTGCC...
NM_001382710.1:c.-56_-45delinsGGCCGCCTGCCC	NP_001369639.1:n.-56_-45delinsGGCCGCCTGCC...
NM_001382711.1:c.-56_-45delinsGGCCGCCTGCCC	NP_001369640.1:n.-56_-45delinsGGCCGCCTGCC...
NM_001382712.1:c.-56_-45delinsGGCCGCCTGCCC	NP_001369641.1:n.-56_-45delinsGGCCGCCTGCC...
NM_001382713.1:c.-56_-45delinsGGCCGCCTGCCC	NP_001369642.1:n.-56_-45delinsGGCCGCCTGCC...