Canonical Allele Identifier: CA2573153162
Gene: TTC19 HGNC NCBI

Linked Data

ClinVar Variation Id: 1663795
ClinVar RCV Id: RCV002188688
dbSNP Id: rs2151640309

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16000042_16000057del , CM000679.2:g.16000042_16000057del GRCh38
NC_000017.10:g.15903356_15903371del , CM000679.1:g.15903356_15903371del GRCh37
NC_000017.9:g.15844081_15844096del NCBI36
NG_029806.1:g.5663_5678del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261647.10:c.184+10_184+25del MANE Select ENSP00000261647.5:n.184+10_184+25del
ENST00000261647.9:c.184+10_184+25del ENSP00000261647.5:n.184+10_184+25del
ENST00000466729.5:c.249+10_249+25del
ENST00000470399.1:c.199+10_199+25del ENSP00000465082.1:n.199+10_199+25del
ENST00000475723.5:c.231+10_231+25del
ENST00000497842.6:n.219_234del
ENST00000583704.1:n.209+10_209+25del
NM_001271420.1:c.-275+10_-275+25del NP_001258349.1:n.-275+10_-275+25del
NM_017775.3:c.184+10_184+25del NP_060245.3:n.184+10_184+25del
XM_011523950.1:c.184+10_184+25del XP_011522252.1:n.184+10_184+25del
XM_017024801.2:c.184+10_184+25del XP_016880290.2:n.184+10_184+25del
XM_017024802.2:c.184+10_184+25del XP_016880291.2:n.184+10_184+25del
XM_024450814.1:c.184+10_184+25del XP_024306582.1:n.184+10_184+25del
NM_017775.4:c.184+10_184+25del MANE Select NP_060245.3:n.184+10_184+25del
NM_001271420.2:c.-275+10_-275+25del NP_001258349.1:n.-275+10_-275+25del