Canonical Allele Identifier: CA2663252437

Gene: DES

Linked Data

• gnomAD v4: 2-219425954-CAGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425957_219425960del , CM000664.2:g.219425957_219425960del	GRCh38
NC_000002.11:g.220290679_220290682del , CM000664.1:g.220290679_220290682del	GRCh37
NC_000002.10:g.219998923_219998926del	NCBI36
NG_008043.1:g.12581_12584del , LRG_380:g.12581_12584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.854_857del
ENST00000683013.1:n.768_771del
ENST00000373960.4:c.1380_1383del MANE Select	ENSP00000363071.3:p.Ser460ArgfsTer30
ENST00000373960.3:c.1380_1383del	ENSP00000363071.3:p.Ser460ArgfsTer30
ENST00000483395.1:n.235_238del
NM_001927.3:c.1380_1383del , LRG_380t1:c.1380_1383del	NP_001918.3:p.Ser460ArgfsTer30
NM_001927.4:c.1380_1383del MANE Select	NP_001918.3:p.Ser460ArgfsTer30
NM_001382708.1:c.1377_1380del	NP_001369637.1:p.Ser459ArgfsTer30
NM_001382709.1:c.948_951del	NP_001369638.1:p.Ser316ArgfsTer30
NM_001382710.1:c.1311_1314del	NP_001369639.1:p.Ser437ArgfsTer30
NM_001382711.1:c.1359_1362del	NP_001369640.1:p.Ser453ArgfsTer30
NM_001382712.1:c.1371+212_1371+215del	NP_001369641.1:n.1371+212_1371+215del
NM_001382713.1:c.1110_1113del	NP_001369642.1:p.Ser370ArgfsTer30