Canonical Allele Identifier: CA2571649161
Gene: TTC19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16028540_16028541del , CM000679.2:g.16028540_16028541del GRCh38
NC_000017.10:g.15931854_15931855del , CM000679.1:g.15931854_15931855del GRCh37
NC_000017.9:g.15872579_15872580del NCBI36
NG_029806.1:g.34161_34162del
NG_047111.1:g.193208_193209del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261647.10:c.*1018_*1019del MANE Select ENSP00000261647.5:n.*1018_*1019del
ENST00000261647.9:c.*1018_*1019del ENSP00000261647.5:n.*1018_*1019del
ENST00000465567.1:n.2555_2556del
ENST00000470649.1:c.247+1838_247+1839del ENSP00000465627.1:n.247+1838_247+1839del
ENST00000475723.5:c.2345_2346del
ENST00000481107.1:n.2829_2830del
NM_001271420.1:c.*1018_*1019del NP_001258349.1:n.*1018_*1019del
NM_017775.3:c.*1018_*1019del NP_060245.3:n.*1018_*1019del
XM_017024801.2:c.994+1838_994+1839del XP_016880290.2:n.994+1838_994+1839del
XM_017024802.2:c.994+1838_994+1839del XP_016880291.2:n.994+1838_994+1839del
NM_017775.4:c.*1018_*1019del MANE Select NP_060245.3:n.*1018_*1019del
NM_001271420.2:c.*1018_*1019del NP_001258349.1:n.*1018_*1019del