Canonical Allele Identifier: CA726463879

Gene: TTC19

Linked Data

• dbSNP Id: rs1468325506
• gnomAD v3: 17-16028128-AAAT-A
• gnomAD v4: 17-16028128-AAAT-A
• MyVariant Identifiers: chr17:g.15931443_15931445del (hg19) ; chr17:g.16028129_16028131del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028131_16028133del , CM000679.2:g.16028131_16028133del	GRCh38
NC_000017.10:g.15931445_15931447del , CM000679.1:g.15931445_15931447del	GRCh37
NC_000017.9:g.15872170_15872172del	NCBI36
NG_029806.1:g.33752_33754del
NG_047111.1:g.193616_193618del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*609_*611del MANE Select	ENSP00000261647.5:n.*609_*611del
ENST00000261647.9:c.*609_*611del	ENSP00000261647.5:n.*609_*611del
ENST00000465567.1:n.2146_2148del
ENST00000470649.1:c.247+1429_247+1431del	ENSP00000465627.1:n.247+1429_247+1431del
ENST00000475723.5:c.1936_1938del
ENST00000481107.1:n.2420_2422del
NM_001271420.1:c.*609_*611del	NP_001258349.1:n.*609_*611del
NM_017775.3:c.*609_*611del	NP_060245.3:n.*609_*611del
XM_017024801.2:c.994+1429_994+1431del	XP_016880290.2:n.994+1429_994+1431del
XM_017024802.2:c.994+1429_994+1431del	XP_016880291.2:n.994+1429_994+1431del
NM_017775.4:c.*609_*611del MANE Select	NP_060245.3:n.*609_*611del
NM_001271420.2:c.*609_*611del	NP_001258349.1:n.*609_*611del