Canonical Allele Identifier: CA2663252137

Gene: DES

Linked Data

• gnomAD v4: 2-219425638-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425638G>C , CM000664.2:g.219425638G>C	GRCh38
NC_000002.11:g.220290360G>C , CM000664.1:g.220290360G>C	GRCh37
NC_000002.10:g.219998604G>C	NCBI36
NG_008043.1:g.12262G>C , LRG_380:g.12262G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.763-25G>C
ENST00000683013.1:n.677-25G>C
ENST00000373960.4:c.1289-25G>C MANE Select	ENSP00000363071.3:n.1289-25G>C
ENST00000373960.3:c.1289-25G>C	ENSP00000363071.3:n.1289-25G>C
ENST00000483395.1:n.119G>C
NM_001927.3:c.1289-25G>C , LRG_380t1:c.1289-25G>C	NP_001918.3:n.1289-25G>C
NM_001927.4:c.1289-25G>C MANE Select	NP_001918.3:n.1289-25G>C
NM_001382708.1:c.1286-25G>C	NP_001369637.1:n.1286-25G>C
NM_001382709.1:c.857-25G>C	NP_001369638.1:n.857-25G>C
NM_001382710.1:c.1220-25G>C	NP_001369639.1:n.1220-25G>C
NM_001382711.1:c.1268-25G>C	NP_001369640.1:n.1268-25G>C
NM_001382712.1:c.1289-25G>C	NP_001369641.1:n.1289-25G>C
NM_001382713.1:c.1019-25G>C	NP_001369642.1:n.1019-25G>C