Canonical Allele Identifier: CA2663250340

Gene: DES

Linked Data

• gnomAD v4: 2-219421241-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421243del , CM000664.2:g.219421243del	GRCh38
NC_000002.11:g.220285965del , CM000664.1:g.220285965del	GRCh37
NC_000002.10:g.219994209del	NCBI36
NG_008043.1:g.7867del , LRG_380:g.7867del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.498-97del
ENST00000683013.1:n.412-97del
ENST00000373960.4:c.1024-97del MANE Select	ENSP00000363071.3:n.1024-97del
ENST00000373960.3:c.1024-97del	ENSP00000363071.3:n.1024-97del
ENST00000477226.5:n.496-97del
ENST00000492726.1:n.419-97del
NM_001927.3:c.1024-97del , LRG_380t1:c.1024-97del	NP_001918.3:n.1024-97del
NM_001927.4:c.1024-97del MANE Select	NP_001918.3:n.1024-97del
NM_001382708.1:c.1021-97del	NP_001369637.1:n.1021-97del
NM_001382709.1:c.736-241del	NP_001369638.1:n.736-241del
NM_001382710.1:c.1024-166del	NP_001369639.1:n.1024-166del
NM_001382711.1:c.1024-118del	NP_001369640.1:n.1024-118del
NM_001382712.1:c.1024-97del	NP_001369641.1:n.1024-97del
NM_001382713.1:c.754-97del	NP_001369642.1:n.754-97del