Canonical Allele Identifier: CA2847436798
Gene: TTC19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16028760_16028761del , CM000679.2:g.16028760_16028761del GRCh38
NC_000017.10:g.15932074_15932075del , CM000679.1:g.15932074_15932075del GRCh37
NC_000017.9:g.15872799_15872800del NCBI36
NG_029806.1:g.34381_34382del
NG_047111.1:g.192986_192987del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261647.10:c.*1238_*1239del MANE Select ENSP00000261647.5:n.*1238_*1239del
ENST00000261647.9:c.*1238_*1239del ENSP00000261647.5:n.*1238_*1239del
ENST00000465567.1:n.2775_2776del
ENST00000470649.1:c.247+2058_247+2059del ENSP00000465627.1:n.247+2058_247+2059del
ENST00000475723.5:c.2565_2566del
ENST00000481107.1:n.3049_3050del
NM_001271420.1:c.*1238_*1239del NP_001258349.1:n.*1238_*1239del
NM_017775.3:c.*1238_*1239del NP_060245.3:n.*1238_*1239del
XM_017024801.2:c.994+2058_994+2059del XP_016880290.2:n.994+2058_994+2059del
XM_017024802.2:c.994+2058_994+2059del XP_016880291.2:n.994+2058_994+2059del
NM_017775.4:c.*1238_*1239del MANE Select NP_060245.3:n.*1238_*1239del
NM_001271420.2:c.*1238_*1239del NP_001258349.1:n.*1238_*1239del