Canonical Allele Identifier: CA2560026055

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421491_219421492insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA , CM000664.2:g.219421491_219421492insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA	GRCh38
NC_000002.11:g.220286213_220286214insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA , CM000664.1:g.220286213_220286214insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA	GRCh37
NC_000002.10:g.219994457_219994458insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA	NCBI36
NG_008043.1:g.8115_8116insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA , LRG_380:g.8115_8116insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000477226.6:n.649_650insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA
ENST00000683013.1:n.563_564insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA
ENST00000373960.4:c.1175_1176insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA MANE Select	ENSP00000363071.3:p.Asn393ArgfsTer?
ENST00000373960.3:c.1175_1176insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA	ENSP00000363071.3:p.Asn393ArgfsTer?
ENST00000477226.5:n.647_648insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA
ENST00000492726.1:n.570_571insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA
NM_001927.3:c.1175_1176insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA , LRG_380t1:c.1175_1176insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA	NP_001918.3:p.Asn393ArgfsTer?
NM_001927.4:c.1175_1176insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA MANE Select	NP_001918.3:p.Asn393ArgfsTer?
NM_001382708.1:c.1172_1173insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA	NP_001369637.1:p.Asn392ArgfsTer?
NM_001382709.1:c.743_744insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA	NP_001369638.1:p.Asn249ArgfsTer?
NM_001382710.1:c.1106_1107insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA	NP_001369639.1:p.Asn370ArgfsTer?
NM_001382711.1:c.1154_1155insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA	NP_001369640.1:p.Asn386ArgfsTer?
NM_001382712.1:c.1175_1176insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA	NP_001369641.1:p.Asn393ArgfsTer?
NM_001382713.1:c.905_906insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA	NP_001369642.1:p.Asn303ArgfsTer?