Canonical Allele Identifier: CA2539756905

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421489_219421490dup , CM000664.2:g.219421489_219421490dup	GRCh38
NC_000002.11:g.220286211_220286212dup , CM000664.1:g.220286211_220286212dup	GRCh37
NC_000002.10:g.219994455_219994456dup	NCBI36
NG_008043.1:g.8113_8114dup , LRG_380:g.8113_8114dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.647_648dup
ENST00000683013.1:n.561_562dup
ENST00000373960.4:c.1173_1174dup MANE Select	ENSP00000363071.3:p.Leu392ArgfsTer4
ENST00000373960.3:c.1173_1174dup	ENSP00000363071.3:p.Leu392ArgfsTer4
ENST00000477226.5:n.645_646dup
ENST00000492726.1:n.568_569dup
NM_001927.3:c.1173_1174dup , LRG_380t1:c.1173_1174dup	NP_001918.3:p.Leu392ArgfsTer4
NM_001927.4:c.1173_1174dup MANE Select	NP_001918.3:p.Leu392ArgfsTer4
NM_001382708.1:c.1170_1171dup	NP_001369637.1:p.Leu391ArgfsTer4
NM_001382709.1:c.741_742dup	NP_001369638.1:p.Leu248ArgfsTer4
NM_001382710.1:c.1104_1105dup	NP_001369639.1:p.Leu369ArgfsTer4
NM_001382711.1:c.1152_1153dup	NP_001369640.1:p.Leu385ArgfsTer4
NM_001382712.1:c.1173_1174dup	NP_001369641.1:p.Leu392ArgfsTer4
NM_001382713.1:c.903_904dup	NP_001369642.1:p.Leu302ArgfsTer4