Canonical Allele Identifier: CA2663250613

Gene: DES

Linked Data

• gnomAD v4: 2-219421597-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421597G>T , CM000664.2:g.219421597G>T	GRCh38
NC_000002.11:g.220286319G>T , CM000664.1:g.220286319G>T	GRCh37
NC_000002.10:g.219994563G>T	NCBI36
NG_008043.1:g.8221G>T , LRG_380:g.8221G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.718+37G>T
ENST00000683013.1:n.632+37G>T
ENST00000373960.4:c.1244+37G>T MANE Select	ENSP00000363071.3:n.1244+37G>T
ENST00000373960.3:c.1244+37G>T	ENSP00000363071.3:n.1244+37G>T
ENST00000477226.5:n.716+37G>T
ENST00000492726.1:n.639+37G>T
NM_001927.3:c.1244+37G>T , LRG_380t1:c.1244+37G>T	NP_001918.3:n.1244+37G>T
NM_001927.4:c.1244+37G>T MANE Select	NP_001918.3:n.1244+37G>T
NM_001382708.1:c.1241+37G>T	NP_001369637.1:n.1241+37G>T
NM_001382709.1:c.812+37G>T	NP_001369638.1:n.812+37G>T
NM_001382710.1:c.1175+37G>T	NP_001369639.1:n.1175+37G>T
NM_001382711.1:c.1223+37G>T	NP_001369640.1:n.1223+37G>T
NM_001382712.1:c.1244+37G>T	NP_001369641.1:n.1244+37G>T
NM_001382713.1:c.974+37G>T	NP_001369642.1:n.974+37G>T