Canonical Allele Identifier: CA2577252701

Gene: DES

Linked Data

• gnomAD v4: 2-219425874-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425874G>A , CM000664.2:g.219425874G>A	GRCh38
NC_000002.11:g.220290596G>A , CM000664.1:g.220290596G>A	GRCh37
NC_000002.10:g.219998840G>A	NCBI36
NG_008043.1:g.12498G>A , LRG_380:g.12498G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.846-75G>A
ENST00000683013.1:n.760-75G>A
ENST00000373960.4:c.1372-75G>A MANE Select	ENSP00000363071.3:n.1372-75G>A
ENST00000373960.3:c.1372-75G>A	ENSP00000363071.3:n.1372-75G>A
ENST00000483395.1:n.227-75G>A
NM_001927.3:c.1372-75G>A , LRG_380t1:c.1372-75G>A	NP_001918.3:n.1372-75G>A
NM_001927.4:c.1372-75G>A MANE Select	NP_001918.3:n.1372-75G>A
NM_001382708.1:c.1369-75G>A	NP_001369637.1:n.1369-75G>A
NM_001382709.1:c.940-75G>A	NP_001369638.1:n.940-75G>A
NM_001382710.1:c.1303-75G>A	NP_001369639.1:n.1303-75G>A
NM_001382711.1:c.1351-75G>A	NP_001369640.1:n.1351-75G>A
NM_001382712.1:c.1371+129G>A	NP_001369641.1:n.1371+129G>A
NM_001382713.1:c.1102-75G>A	NP_001369642.1:n.1102-75G>A