Canonical Allele Identifier: CA2663252009

Gene: DES

Linked Data

• gnomAD v4: 2-219425506-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425509del , CM000664.2:g.219425509del	GRCh38
NC_000002.11:g.220290231del , CM000664.1:g.220290231del	GRCh37
NC_000002.10:g.219998475del	NCBI36
NG_008043.1:g.12133del , LRG_380:g.12133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.763-154del
ENST00000683013.1:n.677-154del
ENST00000373960.4:c.1289-154del MANE Select	ENSP00000363071.3:n.1289-154del
ENST00000373960.3:c.1289-154del	ENSP00000363071.3:n.1289-154del
NM_001927.3:c.1289-154del , LRG_380t1:c.1289-154del	NP_001918.3:n.1289-154del
NM_001927.4:c.1289-154del MANE Select	NP_001918.3:n.1289-154del
NM_001382708.1:c.1286-154del	NP_001369637.1:n.1286-154del
NM_001382709.1:c.857-154del	NP_001369638.1:n.857-154del
NM_001382710.1:c.1220-154del	NP_001369639.1:n.1220-154del
NM_001382711.1:c.1268-154del	NP_001369640.1:n.1268-154del
NM_001382712.1:c.1289-154del	NP_001369641.1:n.1289-154del
NM_001382713.1:c.1019-154del	NP_001369642.1:n.1019-154del