Canonical Allele Identifier: CA2663253486

Gene: DES

Linked Data

• gnomAD v4: 2-219426335-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219426335G>T , CM000664.2:g.219426335G>T	GRCh38
NC_000002.11:g.220291057G>T , CM000664.1:g.220291057G>T	GRCh37
NC_000002.10:g.219999301G>T	NCBI36
NG_008043.1:g.12959G>T , LRG_380:g.12959G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.1232G>T
ENST00000683013.1:n.1146G>T
ENST00000373960.4:c.*345G>T MANE Select	ENSP00000363071.3:n.*345G>T
ENST00000373960.3:c.*345G>T	ENSP00000363071.3:n.*345G>T
NM_001927.3:c.*345G>T , LRG_380t1:c.*345G>T	NP_001918.3:n.*345G>T
NM_001927.4:c.*345G>T MANE Select	NP_001918.3:n.*345G>T
NM_001382708.1:c.*345G>T	NP_001369637.1:n.*345G>T
NM_001382709.1:c.*345G>T	NP_001369638.1:n.*345G>T
NM_001382710.1:c.*345G>T	NP_001369639.1:n.*345G>T
NM_001382711.1:c.*345G>T	NP_001369640.1:n.*345G>T
NM_001382712.1:c.1372-218G>T	NP_001369641.1:n.1372-218G>T
NM_001382713.1:c.*345G>T	NP_001369642.1:n.*345G>T