Canonical Allele Identifier: CA1329210145

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219419001_219419013delinsGCGACAACCTGCT , CM000664.2:g.219419001_219419013delinsGCGACAACCTGCT	GRCh38
NC_000002.11:g.220283723_220283735delinsGCGACAACCTGCT , CM000664.1:g.220283723_220283735delinsGCGACAACCTGCT	GRCh37
NC_000002.10:g.219991967_219991979delinsGCGACAACCTGCT	NCBI36
NG_008043.1:g.5625_5637delinsGCGACAACCTGCT , LRG_380:g.5625_5637delinsGCGACAACCTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.539_551delinsGCGACAACCTGCT MANE Select	ENSP00000363071.3:p.Arg180=
ENST00000373960.3:c.539_551delinsGCGACAACCTGCT	ENSP00000363071.3:p.Arg180=
NM_001927.3:c.539_551delinsGCGACAACCTGCT , LRG_380t1:c.539_551delinsGCGACAACCTGCT	NP_001918.3:p.Arg180=
NM_001927.4:c.539_551delinsGCGACAACCTGCT MANE Select	NP_001918.3:p.Arg180=
NM_001382708.1:c.539_551delinsGCGACAACCTGCT	NP_001369637.1:p.Arg180=
NM_001382709.1:c.539_551delinsGCGACAACCTGCT	NP_001369638.1:p.Arg180=
NM_001382710.1:c.539_551delinsGCGACAACCTGCT	NP_001369639.1:p.Arg180=
NM_001382711.1:c.539_551delinsGCGACAACCTGCT	NP_001369640.1:p.Arg180=
NM_001382712.1:c.539_551delinsGCGACAACCTGCT	NP_001369641.1:p.Arg180=
NM_001382713.1:c.495+44_495+56delinsGCGACAACCTGCT	NP_001369642.1:n.495+44_495+56delinsGCGACAACCTGCT