Canonical Allele Identifier: CA1329209815

Gene: DES

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219418499_219418511delinsTCCTACCGCCGCA , CM000664.2:g.219418499_219418511delinsTCCTACCGCCGCA	GRCh38
NC_000002.11:g.220283221_220283233delinsTCCTACCGCCGCA , CM000664.1:g.220283221_220283233delinsTCCTACCGCCGCA	GRCh37
NC_000002.10:g.219991465_219991477delinsTCCTACCGCCGCA	NCBI36
NG_008043.1:g.5123_5135delinsTCCTACCGCCGCA , LRG_380:g.5123_5135delinsTCCTACCGCCGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373960.4:c.37_49delinsTCCTACCGCCGCA MANE Select	ENSP00000363071.3:p.Ser13=
ENST00000373960.3:c.37_49delinsTCCTACCGCCGCA	ENSP00000363071.3:p.Ser13=
NM_001927.3:c.37_49delinsTCCTACCGCCGCA , LRG_380t1:c.37_49delinsTCCTACCGCCGCA	NP_001918.3:p.Ser13=
NM_001927.4:c.37_49delinsTCCTACCGCCGCA MANE Select	NP_001918.3:p.Ser13=
NM_001382708.1:c.37_49delinsTCCTACCGCCGCA	NP_001369637.1:p.Ser13=
NM_001382709.1:c.37_49delinsTCCTACCGCCGCA	NP_001369638.1:p.Ser13=
NM_001382710.1:c.37_49delinsTCCTACCGCCGCA	NP_001369639.1:p.Ser13=
NM_001382711.1:c.37_49delinsTCCTACCGCCGCA	NP_001369640.1:p.Ser13=
NM_001382712.1:c.37_49delinsTCCTACCGCCGCA	NP_001369641.1:p.Ser13=
NM_001382713.1:c.37_49delinsTCCTACCGCCGCA	NP_001369642.1:p.Ser13=