Canonical Allele Identifier: CA2740096473

Gene: DES

Linked Data

• ClinVar Variation Id: 2943144
• ClinVar RCV Id: RCV003800262

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219419011_219419026del , CM000664.2:g.219419011_219419026del	GRCh38
NC_000002.11:g.220283733_220283748del , CM000664.1:g.220283733_220283748del	GRCh37
NC_000002.10:g.219991977_219991992del	NCBI36
NG_008043.1:g.5635_5650del , LRG_380:g.5635_5650del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.549_564del MANE Select	ENSP00000363071.3:p.Leu184GlyfsTer12
ENST00000373960.3:c.549_564del	ENSP00000363071.3:p.Leu184GlyfsTer12
NM_001927.3:c.549_564del , LRG_380t1:c.549_564del	NP_001918.3:p.Leu184GlyfsTer12
NM_001927.4:c.549_564del MANE Select	NP_001918.3:p.Leu184GlyfsTer12
NM_001382708.1:c.549_564del	NP_001369637.1:p.Leu184GlyfsTer12
NM_001382709.1:c.549_564del	NP_001369638.1:p.Leu184GlyfsTer12
NM_001382710.1:c.549_564del	NP_001369639.1:p.Leu184GlyfsTer12
NM_001382711.1:c.549_564del	NP_001369640.1:p.Leu184GlyfsTer12
NM_001382712.1:c.549_564del	NP_001369641.1:p.Leu184GlyfsTer12
NM_001382713.1:c.495+54_495+69del	NP_001369642.1:n.495+54_495+69del