Canonical Allele Identifier: CA2573135504

Gene: DES

Linked Data

• ClinVar Variation Id: 1425184
• ClinVar RCV Id: RCV001924330

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418536_219418537delinsTG , CM000664.2:g.219418536_219418537delinsTG	GRCh38
NC_000002.11:g.220283258_220283259delinsTG , CM000664.1:g.220283258_220283259delinsTG	GRCh37
NC_000002.10:g.219991502_219991503delinsTG	NCBI36
NG_008043.1:g.5160_5161delinsTG , LRG_380:g.5160_5161delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.74_75delinsTG MANE Select	ENSP00000363071.3:p.Pro25Leu
ENST00000373960.3:c.74_75delinsTG	ENSP00000363071.3:p.Pro25Leu
NM_001927.3:c.74_75delinsTG , LRG_380t1:c.74_75delinsTG	NP_001918.3:p.Pro25Leu
NM_001927.4:c.74_75delinsTG MANE Select	NP_001918.3:p.Pro25Leu
NM_001382708.1:c.74_75delinsTG	NP_001369637.1:p.Pro25Leu
NM_001382709.1:c.74_75delinsTG	NP_001369638.1:p.Pro25Leu
NM_001382710.1:c.74_75delinsTG	NP_001369639.1:p.Pro25Leu
NM_001382711.1:c.74_75delinsTG	NP_001369640.1:p.Pro25Leu
NM_001382712.1:c.74_75delinsTG	NP_001369641.1:p.Pro25Leu
NM_001382713.1:c.74_75delinsTG	NP_001369642.1:p.Pro25Leu