Canonical Allele Identifier: CA2663252029

Gene: DES

Linked Data

• gnomAD v4: 2-219425523-TGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425528_219425530del , CM000664.2:g.219425528_219425530del	GRCh38
NC_000002.11:g.220290250_220290252del , CM000664.1:g.220290250_220290252del	GRCh37
NC_000002.10:g.219998494_219998496del	NCBI36
NG_008043.1:g.12152_12154del , LRG_380:g.12152_12154del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.763-135_763-133del
ENST00000683013.1:n.677-135_677-133del
ENST00000373960.4:c.1289-135_1289-133del MANE Select	ENSP00000363071.3:n.1289-135_1289-133del
ENST00000373960.3:c.1289-135_1289-133del	ENSP00000363071.3:n.1289-135_1289-133del
ENST00000483395.1:n.9_11del
NM_001927.3:c.1289-135_1289-133del , LRG_380t1:c.1289-135_1289-133del	NP_001918.3:n.1289-135_1289-133del
NM_001927.4:c.1289-135_1289-133del MANE Select	NP_001918.3:n.1289-135_1289-133del
NM_001382708.1:c.1286-135_1286-133del	NP_001369637.1:n.1286-135_1286-133del
NM_001382709.1:c.857-135_857-133del	NP_001369638.1:n.857-135_857-133del
NM_001382710.1:c.1220-135_1220-133del	NP_001369639.1:n.1220-135_1220-133del
NM_001382711.1:c.1268-135_1268-133del	NP_001369640.1:n.1268-135_1268-133del
NM_001382712.1:c.1289-135_1289-133del	NP_001369641.1:n.1289-135_1289-133del
NM_001382713.1:c.1019-135_1019-133del	NP_001369642.1:n.1019-135_1019-133del