Canonical Allele Identifier: CA8407691

Gene: TTC19

Linked Data

• dbSNP Id: rs753331193
• ExAC: 17:15932124 GCATTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA / G
• gnomAD v2: 17-15932124-GCATTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA-G
• gnomAD v4: 17-16028810-GCATTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA-G
• MyVariant Identifiers: chr17:g.15932125_15932160del (hg19) ; chr17:g.16028811_16028846del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028812_16028847del , CM000679.2:g.16028812_16028847del	GRCh38
NC_000017.10:g.15932126_15932161del , CM000679.1:g.15932126_15932161del	GRCh37
NC_000017.9:g.15872851_15872886del	NCBI36
NG_029806.1:g.34433_34468del
NG_047111.1:g.192901_192936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*1290_*1325del MANE Select	ENSP00000261647.5:n.*1290_*1325del
ENST00000261647.9:c.*1290_*1325del	ENSP00000261647.5:n.*1290_*1325del
ENST00000470649.1:c.247+2110_247+2145del	ENSP00000465627.1:n.247+2110_247+2145del
NM_001271420.1:c.*1290_*1325del	NP_001258349.1:n.*1290_*1325del
NM_017775.3:c.*1290_*1325del	NP_060245.3:n.*1290_*1325del
XM_017024801.2:c.994+2110_994+2145del	XP_016880290.2:n.994+2110_994+2145del
XM_017024802.2:c.994+2110_994+2145del	XP_016880291.2:n.994+2110_994+2145del
NM_017775.4:c.*1290_*1325del MANE Select	NP_060245.3:n.*1290_*1325del
NM_001271420.2:c.*1290_*1325del	NP_001258349.1:n.*1290_*1325del