Canonical Allele Identifier: CA2741521501
Gene: TTC19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16028847_16028851del , CM000679.2:g.16028847_16028851del GRCh38
NC_000017.10:g.15932161_15932165del , CM000679.1:g.15932161_15932165del GRCh37
NC_000017.9:g.15872886_15872890del NCBI36
NG_029806.1:g.34468_34472del
NG_047111.1:g.192896_192900del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261647.10:c.*1325_*1329del MANE Select ENSP00000261647.5:n.*1325_*1329del
ENST00000261647.9:c.*1325_*1329del ENSP00000261647.5:n.*1325_*1329del
ENST00000470649.1:c.247+2145_247+2149del ENSP00000465627.1:n.247+2145_247+2149del
NM_001271420.1:c.*1325_*1329del NP_001258349.1:n.*1325_*1329del
NM_017775.3:c.*1325_*1329del NP_060245.3:n.*1325_*1329del
XM_017024801.2:c.994+2145_994+2149del XP_016880290.2:n.994+2145_994+2149del
XM_017024802.2:c.994+2145_994+2149del XP_016880291.2:n.994+2145_994+2149del
NM_017775.4:c.*1325_*1329del MANE Select NP_060245.3:n.*1325_*1329del
NM_001271420.2:c.*1325_*1329del NP_001258349.1:n.*1325_*1329del