Canonical Allele Identifier: CA539629355

Gene: DES

Linked Data

• dbSNP Id: rs1461345151
• gnomAD v2: 2-220290237-TAA-T
• gnomAD v3: 2-219425515-TAA-T
• gnomAD v4: 2-219425515-TAA-T
• MyVariant Identifiers: chr2:g.220290238_220290239del (hg19) ; chr2:g.219425516_219425517del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425517_219425518del , CM000664.2:g.219425517_219425518del	GRCh38
NC_000002.11:g.220290239_220290240del , CM000664.1:g.220290239_220290240del	GRCh37
NC_000002.10:g.219998483_219998484del	NCBI36
NG_008043.1:g.12141_12142del , LRG_380:g.12141_12142del

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.763-146_763-145del
ENST00000683013.1:n.677-146_677-145del
ENST00000373960.4:c.1289-146_1289-145del MANE Select	ENSP00000363071.3:n.1289-146_1289-145del
ENST00000373960.3:c.1289-146_1289-145del	ENSP00000363071.3:n.1289-146_1289-145del
NM_001927.3:c.1289-146_1289-145del , LRG_380t1:c.1289-146_1289-145del	NP_001918.3:n.1289-146_1289-145del
NM_001927.4:c.1289-146_1289-145del MANE Select	NP_001918.3:n.1289-146_1289-145del
NM_001382708.1:c.1286-146_1286-145del	NP_001369637.1:n.1286-146_1286-145del
NM_001382709.1:c.857-146_857-145del	NP_001369638.1:n.857-146_857-145del
NM_001382710.1:c.1220-146_1220-145del	NP_001369639.1:n.1220-146_1220-145del
NM_001382711.1:c.1268-146_1268-145del	NP_001369640.1:n.1268-146_1268-145del
NM_001382712.1:c.1289-146_1289-145del	NP_001369641.1:n.1289-146_1289-145del
NM_001382713.1:c.1019-146_1019-145del	NP_001369642.1:n.1019-146_1019-145del