Canonical Allele Identifier: CA2808599847
Gene: TTC19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16028846_16028847insAAAAAAACA , CM000679.2:g.16028846_16028847insAAAAAAACA GRCh38
NC_000017.10:g.15932160_15932161insAAAAAAACA , CM000679.1:g.15932160_15932161insAAAAAAACA GRCh37
NC_000017.9:g.15872885_15872886insAAAAAAACA NCBI36
NG_029806.1:g.34467_34468insAAAAAAACA
NG_047111.1:g.192901_192902insGTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000261647.10:c.*1324_*1325insAAAAAAACA MANE Select ENSP00000261647.5:n.*1324_*1325insAAAAAAACA
ENST00000261647.9:c.*1324_*1325insAAAAAAACA ENSP00000261647.5:n.*1324_*1325insAAAAAAACA
ENST00000470649.1:c.247+2144_247+2145insAAAAAAACA ENSP00000465627.1:n.247+2144_247+2145insAAAAAAACA
NM_001271420.1:c.*1324_*1325insAAAAAAACA NP_001258349.1:n.*1324_*1325insAAAAAAACA
NM_017775.3:c.*1324_*1325insAAAAAAACA NP_060245.3:n.*1324_*1325insAAAAAAACA
XM_017024801.2:c.994+2144_994+2145insAAAAAAACA XP_016880290.2:n.994+2144_994+2145insAAAAAAACA
XM_017024802.2:c.994+2144_994+2145insAAAAAAACA XP_016880291.2:n.994+2144_994+2145insAAAAAAACA
NM_017775.4:c.*1324_*1325insAAAAAAACA MANE Select NP_060245.3:n.*1324_*1325insAAAAAAACA
NM_001271420.2:c.*1324_*1325insAAAAAAACA NP_001258349.1:n.*1324_*1325insAAAAAAACA