Canonical Allele Identifier: CA919799315

Gene: TTC19

Linked Data

• dbSNP Id: rs1567589530
• gnomAD v4: 17-16028236-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028239_16028240del , CM000679.2:g.16028239_16028240del	GRCh38
NC_000017.10:g.15931553_15931554del , CM000679.1:g.15931553_15931554del	GRCh37
NC_000017.9:g.15872278_15872279del	NCBI36
NG_029806.1:g.33860_33861del
NG_047111.1:g.193509_193510del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261647.10:c.*717_*718del MANE Select	ENSP00000261647.5:n.*717_*718del
ENST00000261647.9:c.*717_*718del	ENSP00000261647.5:n.*717_*718del
ENST00000465567.1:n.2254_2255del
ENST00000470649.1:c.247+1537_247+1538del	ENSP00000465627.1:n.247+1537_247+1538del
ENST00000475723.5:c.2044_2045del
ENST00000481107.1:n.2528_2529del
NM_001271420.1:c.*717_*718del	NP_001258349.1:n.*717_*718del
NM_017775.3:c.*717_*718del	NP_060245.3:n.*717_*718del
XM_017024801.2:c.994+1537_994+1538del	XP_016880290.2:n.994+1537_994+1538del
XM_017024802.2:c.994+1537_994+1538del	XP_016880291.2:n.994+1537_994+1538del
NM_017775.4:c.*717_*718del MANE Select	NP_060245.3:n.*717_*718del
NM_001271420.2:c.*717_*718del	NP_001258349.1:n.*717_*718del