Canonical Allele Identifier: CA1329210044

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418860_219418871delinsACGCGGCGCTCG , CM000664.2:g.219418860_219418871delinsACGCGGCGCTCG	GRCh38
NC_000002.11:g.220283582_220283593delinsACGCGGCGCTCG , CM000664.1:g.220283582_220283593delinsACGCGGCGCTCG	GRCh37
NC_000002.10:g.219991826_219991837delinsACGCGGCGCTCG	NCBI36
NG_008043.1:g.5484_5495delinsACGCGGCGCTCG , LRG_380:g.5484_5495delinsACGCGGCGCTCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000373960.4:c.398_409delinsACGCGGCGCTCG MANE Select	ENSP00000363071.3:p.Asn133=
ENST00000373960.3:c.398_409delinsACGCGGCGCTCG	ENSP00000363071.3:p.Asn133=
NM_001927.3:c.398_409delinsACGCGGCGCTCG , LRG_380t1:c.398_409delinsACGCGGCGCTCG	NP_001918.3:p.Asn133=
NM_001927.4:c.398_409delinsACGCGGCGCTCG MANE Select	NP_001918.3:p.Asn133=
NM_001382708.1:c.398_409delinsACGCGGCGCTCG	NP_001369637.1:p.Asn133=
NM_001382709.1:c.398_409delinsACGCGGCGCTCG	NP_001369638.1:p.Asn133=
NM_001382710.1:c.398_409delinsACGCGGCGCTCG	NP_001369639.1:p.Asn133=
NM_001382711.1:c.398_409delinsACGCGGCGCTCG	NP_001369640.1:p.Asn133=
NM_001382712.1:c.398_409delinsACGCGGCGCTCG	NP_001369641.1:p.Asn133=
NM_001382713.1:c.398_409delinsACGCGGCGCTCG	NP_001369642.1:p.Asn133=