Canonical Allele Identifier: CA2241805534
Gene: DPEP1 HGNC NCBI

Linked Data

dbSNP Id: rs2059366220

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89614779_89614780del , CM000678.2:g.89614779_89614780del GRCh38
NC_000016.9:g.89681187_89681188del , CM000678.1:g.89681187_89681188del GRCh37
NC_000016.8:g.88208688_88208689del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000690203.1:c.-107+1060_-107+1061del MANE Select ENSP00000508584.1:n.-107+1060_-107+1061del
ENST00000421184.5:c.-107+1375_-107+1376del ENSP00000397313.1:n.-107+1375_-107+1376del
ENST00000564281.5:n.47+1060_47+1061del
ENST00000565249.5:n.171+1060_171+1061del
ENST00000570029.5:c.-107+1375_-107+1376del ENSP00000455916.1:n.-107+1375_-107+1376del
NM_001128141.2:c.-107+1375_-107+1376del NP_001121613.1:n.-107+1375_-107+1376del
XM_005256285.3:c.-107+1060_-107+1061del XP_005256342.1:n.-107+1060_-107+1061del
XM_011522926.1:c.-107+1060_-107+1061del XP_011521228.1:n.-107+1060_-107+1061del
XM_005256285.5:c.-107+1060_-107+1061del XP_005256342.1:n.-107+1060_-107+1061del
NM_001128141.3:c.-107+1375_-107+1376del NP_001121613.1:n.-107+1375_-107+1376del
NM_001389466.1:c.-107+1060_-107+1061del MANE Select NP_001376395.1:n.-107+1060_-107+1061del
NM_001389470.1:c.-107+1060_-107+1061del NP_001376399.1:n.-107+1060_-107+1061del