Canonical Allele Identifier: CA2663250318

Gene: DES

Linked Data

• gnomAD v4: 2-219421211-CTTAAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421214_219421218del , CM000664.2:g.219421214_219421218del	GRCh38
NC_000002.11:g.220285936_220285940del , CM000664.1:g.220285936_220285940del	GRCh37
NC_000002.10:g.219994180_219994184del	NCBI36
NG_008043.1:g.7838_7842del , LRG_380:g.7838_7842del

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.498-126_498-122del
ENST00000683013.1:n.412-126_412-122del
ENST00000373960.4:c.1024-126_1024-122del MANE Select	ENSP00000363071.3:n.1024-126_1024-122del
ENST00000373960.3:c.1024-126_1024-122del	ENSP00000363071.3:n.1024-126_1024-122del
ENST00000477226.5:n.496-126_496-122del
ENST00000492726.1:n.419-126_419-122del
NM_001927.3:c.1024-126_1024-122del , LRG_380t1:c.1024-126_1024-122del	NP_001918.3:n.1024-126_1024-122del
NM_001927.4:c.1024-126_1024-122del MANE Select	NP_001918.3:n.1024-126_1024-122del
NM_001382708.1:c.1021-126_1021-122del	NP_001369637.1:n.1021-126_1021-122del
NM_001382709.1:c.736-270_736-266del	NP_001369638.1:n.736-270_736-266del
NM_001382710.1:c.1024-195_1024-191del	NP_001369639.1:n.1024-195_1024-191del
NM_001382711.1:c.1024-147_1024-143del	NP_001369640.1:n.1024-147_1024-143del
NM_001382712.1:c.1024-126_1024-122del	NP_001369641.1:n.1024-126_1024-122del
NM_001382713.1:c.754-126_754-122del	NP_001369642.1:n.754-126_754-122del