Canonical Allele Identifier: CA2663250457

Gene: DES

Linked Data

• gnomAD v4: 2-219418996-CGAGCGCGACAACCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418998_219419011del , CM000664.2:g.219418998_219419011del	GRCh38
NC_000002.11:g.220283720_220283733del , CM000664.1:g.220283720_220283733del	GRCh37
NC_000002.10:g.219991964_219991977del	NCBI36
NG_008043.1:g.5622_5635del , LRG_380:g.5622_5635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.536_549del MANE Select	ENSP00000363071.3:p.Glu179AlafsTer?
ENST00000373960.3:c.536_549del	ENSP00000363071.3:p.Glu179AlafsTer?
NM_001927.3:c.536_549del , LRG_380t1:c.536_549del	NP_001918.3:p.Glu179AlafsTer?
NM_001927.4:c.536_549del MANE Select	NP_001918.3:p.Glu179AlafsTer?
NM_001382708.1:c.536_549del	NP_001369637.1:p.Glu179AlafsTer?
NM_001382709.1:c.536_549del	NP_001369638.1:p.Glu179AlafsTer?
NM_001382710.1:c.536_549del	NP_001369639.1:p.Glu179AlafsTer?
NM_001382711.1:c.536_549del	NP_001369640.1:p.Glu179AlafsTer?
NM_001382712.1:c.536_549del	NP_001369641.1:p.Glu179AlafsTer?
NM_001382713.1:c.495+41_495+54del	NP_001369642.1:n.495+41_495+54del