Canonical Allele Identifier: CA764967551

Gene: DES

Linked Data

• dbSNP Id: rs1323233474
• gnomAD v3: 2-219425547-AG-A
• gnomAD v4: 2-219425547-AG-A
• MyVariant Identifiers: chr2:g.220290270del (hg19) ; chr2:g.219425548del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425553del , CM000664.2:g.219425553del	GRCh38
NC_000002.11:g.220290275del , CM000664.1:g.220290275del	GRCh37
NC_000002.10:g.219998519del	NCBI36
NG_008043.1:g.12177del , LRG_380:g.12177del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.763-110del
ENST00000683013.1:n.677-110del
ENST00000373960.4:c.1289-110del MANE Select	ENSP00000363071.3:n.1289-110del
ENST00000373960.3:c.1289-110del	ENSP00000363071.3:n.1289-110del
ENST00000483395.1:n.34del
NM_001927.3:c.1289-110del , LRG_380t1:c.1289-110del	NP_001918.3:n.1289-110del
NM_001927.4:c.1289-110del MANE Select	NP_001918.3:n.1289-110del
NM_001382708.1:c.1286-110del	NP_001369637.1:n.1286-110del
NM_001382709.1:c.857-110del	NP_001369638.1:n.857-110del
NM_001382710.1:c.1220-110del	NP_001369639.1:n.1220-110del
NM_001382711.1:c.1268-110del	NP_001369640.1:n.1268-110del
NM_001382712.1:c.1289-110del	NP_001369641.1:n.1289-110del
NM_001382713.1:c.1019-110del	NP_001369642.1:n.1019-110del