Canonical Allele Identifier: CA2847436797
Gene: TTC19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16028746_16028755del , CM000679.2:g.16028746_16028755del GRCh38
NC_000017.10:g.15932060_15932069del , CM000679.1:g.15932060_15932069del GRCh37
NC_000017.9:g.15872785_15872794del NCBI36
NG_029806.1:g.34367_34376del
NG_047111.1:g.192992_193001del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261647.10:c.*1224_*1233del MANE Select ENSP00000261647.5:n.*1224_*1233del
ENST00000261647.9:c.*1224_*1233del ENSP00000261647.5:n.*1224_*1233del
ENST00000465567.1:n.2761_2770del
ENST00000470649.1:c.247+2044_247+2053del ENSP00000465627.1:n.247+2044_247+2053del
ENST00000475723.5:c.2551_2560del
ENST00000481107.1:n.3035_3044del
NM_001271420.1:c.*1224_*1233del NP_001258349.1:n.*1224_*1233del
NM_017775.3:c.*1224_*1233del NP_060245.3:n.*1224_*1233del
XM_017024801.2:c.994+2044_994+2053del XP_016880290.2:n.994+2044_994+2053del
XM_017024802.2:c.994+2044_994+2053del XP_016880291.2:n.994+2044_994+2053del
NM_017775.4:c.*1224_*1233del MANE Select NP_060245.3:n.*1224_*1233del
NM_001271420.2:c.*1224_*1233del NP_001258349.1:n.*1224_*1233del