Canonical Allele Identifier: CA2573332563

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219425693_219425694insTCTGAGTT , CM000664.2:g.219425693_219425694insTCTGAGTT	GRCh38
NC_000002.11:g.220290415_220290416insTCTGAGTT , CM000664.1:g.220290415_220290416insTCTGAGTT	GRCh37
NC_000002.10:g.219998659_219998660insTCTGAGTT	NCBI36
NG_008043.1:g.12317_12318insTCTGAGTT , LRG_380:g.12317_12318insTCTGAGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.793_794insTCTGAGTT
ENST00000683013.1:n.707_708insTCTGAGTT
ENST00000373960.4:c.1319_1320insTCTGAGTT MANE Select	ENSP00000363071.3:p.His441LeufsTer9
ENST00000373960.3:c.1319_1320insTCTGAGTT	ENSP00000363071.3:p.His441LeufsTer9
ENST00000483395.1:n.174_175insTCTGAGTT
NM_001927.3:c.1319_1320insTCTGAGTT , LRG_380t1:c.1319_1320insTCTGAGTT	NP_001918.3:p.His441LeufsTer9
NM_001927.4:c.1319_1320insTCTGAGTT MANE Select	NP_001918.3:p.His441LeufsTer9
NM_001382708.1:c.1316_1317insTCTGAGTT	NP_001369637.1:p.His440LeufsTer9
NM_001382709.1:c.887_888insTCTGAGTT	NP_001369638.1:p.His297LeufsTer9
NM_001382710.1:c.1250_1251insTCTGAGTT	NP_001369639.1:p.His418LeufsTer9
NM_001382711.1:c.1298_1299insTCTGAGTT	NP_001369640.1:p.His434LeufsTer9
NM_001382712.1:c.1319_1320insTCTGAGTT	NP_001369641.1:p.His441LeufsTer9
NM_001382713.1:c.1049_1050insTCTGAGTT	NP_001369642.1:p.His351LeufsTer9