Canonical Allele Identifier: CA2577252533

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418986_219418988del , CM000664.2:g.219418986_219418988del	GRCh38
NC_000002.11:g.220283708_220283710del , CM000664.1:g.220283708_220283710del	GRCh37
NC_000002.10:g.219991952_219991954del	NCBI36
NG_008043.1:g.5610_5612del , LRG_380:g.5610_5612del

Transcript Alleles

HGVS	Amino-acid change
ENST00000373960.4:c.524_526del MANE Select	ENSP00000363071.3:p.Arg175_Val176delinsLe...
ENST00000373960.3:c.524_526del	ENSP00000363071.3:p.Arg175_Val176delinsLe...
NM_001927.3:c.524_526del , LRG_380t1:c.524_526del	NP_001918.3:p.Arg175_Val176delinsLeu
NM_001927.4:c.524_526del MANE Select	NP_001918.3:p.Arg175_Val176delinsLeu
NM_001382708.1:c.524_526del	NP_001369637.1:p.Arg175_Val176delinsLeu
NM_001382709.1:c.524_526del	NP_001369638.1:p.Arg175_Val176delinsLeu
NM_001382710.1:c.524_526del	NP_001369639.1:p.Arg175_Val176delinsLeu
NM_001382711.1:c.524_526del	NP_001369640.1:p.Arg175_Val176delinsLeu
NM_001382712.1:c.524_526del	NP_001369641.1:p.Arg175_Val176delinsLeu
NM_001382713.1:c.495+29_495+31del	NP_001369642.1:n.495+29_495+31del