Canonical Allele Identifier: CA2663249888

Gene: DES

Linked Data

• gnomAD v4: 2-219420691-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219420691C>G , CM000664.2:g.219420691C>G	GRCh38
NC_000002.11:g.220285413C>G , CM000664.1:g.220285413C>G	GRCh37
NC_000002.10:g.219993657C>G	NCBI36
NG_008043.1:g.7315C>G , LRG_380:g.7315C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.371+35C>G
ENST00000683013.1:n.285+35C>G
ENST00000373960.4:c.897+35C>G MANE Select	ENSP00000363071.3:n.897+35C>G
ENST00000373960.3:c.897+35C>G	ENSP00000363071.3:n.897+35C>G
ENST00000477226.5:n.369+35C>G
ENST00000492726.1:n.292+35C>G
NM_001927.3:c.897+35C>G , LRG_380t1:c.897+35C>G	NP_001918.3:n.897+35C>G
NM_001927.4:c.897+35C>G MANE Select	NP_001918.3:n.897+35C>G
NM_001382708.1:c.894+35C>G	NP_001369637.1:n.894+35C>G
NM_001382709.1:c.735+345C>G	NP_001369638.1:n.735+345C>G
NM_001382710.1:c.897+35C>G	NP_001369639.1:n.897+35C>G
NM_001382711.1:c.897+35C>G	NP_001369640.1:n.897+35C>G
NM_001382712.1:c.897+35C>G	NP_001369641.1:n.897+35C>G
NM_001382713.1:c.627+35C>G	NP_001369642.1:n.627+35C>G