Canonical Allele Identifier: CA645546501
Community Standard Title: NM_001385.3(DPYS):c.1064_1065delinsAA (p.Arg355Gln)
Gene: DPYS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.104428007_104428008delinsTT , CM000670.2:g.104428007_104428008delinsTT GRCh38
NC_000008.10:g.105440235_105440236delinsTT , CM000670.1:g.105440235_105440236delinsTT GRCh37
NC_000008.9:g.105509411_105509412delinsTT NCBI36
NG_008840.1:g.44042_44043delinsAA
NG_008840.2:g.44042_44043delinsAA

Transcript Alleles

HGVS Amino-acid Change
NM_001385.3:c.1064_1065delinsAA MANE Select NP_001376.1:p.Arg355Gln
ENST00000351513.7:c.1064_1065delinsAA MANE Select ENSP00000276651.2:p.Arg355Gln
NM_001385.2:c.1064_1065delinsAA NP_001376.1:p.Arg355Gln
ENST00000351513.6:c.1064_1065delinsAA ENSP00000276651.2:p.Arg355Gln
XM_005250818.2:c.1064_1065delinsAA XP_005250875.1:p.Arg355Gln
XM_005250818.3:c.1064_1065delinsAA XP_005250875.1:p.Arg355Gln
XM_006716518.2:c.905_906delinsAA XP_006716581.1:p.Arg302Gln
XM_006716518.3:c.905_906delinsAA XP_006716581.1:p.Arg302Gln
XM_011516903.1:c.1064_1065delinsAA XP_011515205.1:p.Arg355Gln
XM_011516903.3:c.1064_1065delinsAA XP_011515205.1:p.Arg355Gln
XM_011516904.1:c.1064_1065delinsAA XP_011515206.1:p.Arg355Gln
XM_017013167.2:c.1064_1065delinsAA XP_016868656.1:p.Arg355Gln
XM_024447087.1:c.1064_1065delinsAA XP_024302855.1:p.Arg355Gln
XR_001745489.1:n.1218_1219delinsAA
XR_001745490.2:n.1218_1219delinsAA