Canonical Allele Identifier: CA981832809

Gene: TTC19

Linked Data

• dbSNP Id: rs1567590702
• gnomAD v3: 17-16028843-A-AAAAAAAAAAC
• gnomAD v4: 17-16028843-A-AAAAAAAAAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028846_16028847insAAAAAACAAA , CM000679.2:g.16028846_16028847insAAAAAACAAA	GRCh38
NC_000017.10:g.15932160_15932161insAAAAAACAAA , CM000679.1:g.15932160_15932161insAAAAAACAAA	GRCh37
NC_000017.9:g.15872885_15872886insAAAAAACAAA	NCBI36
NG_029806.1:g.34467_34468insAAAAAACAAA
NG_047111.1:g.192903_192904insGTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*1324_*1325insAAAAAACAAA MANE Select	ENSP00000261647.5:n.*1324_*1325insAAAAAACAAA
ENST00000261647.9:c.*1324_*1325insAAAAAACAAA	ENSP00000261647.5:n.*1324_*1325insAAAAAACAAA
ENST00000470649.1:c.247+2144_247+2145insAAAAAACAAA	ENSP00000465627.1:n.247+2144_247+2145insAAAAAACAAA
NM_001271420.1:c.*1324_*1325insAAAAAACAAA	NP_001258349.1:n.*1324_*1325insAAAAAACAAA
NM_017775.3:c.*1324_*1325insAAAAAACAAA	NP_060245.3:n.*1324_*1325insAAAAAACAAA
XM_017024801.2:c.994+2144_994+2145insAAAAAACAAA	XP_016880290.2:n.994+2144_994+2145insAAAAAACAAA
XM_017024802.2:c.994+2144_994+2145insAAAAAACAAA	XP_016880291.2:n.994+2144_994+2145insAAAAAACAAA
NM_017775.4:c.*1324_*1325insAAAAAACAAA MANE Select	NP_060245.3:n.*1324_*1325insAAAAAACAAA
NM_001271420.2:c.*1324_*1325insAAAAAACAAA	NP_001258349.1:n.*1324_*1325insAAAAAACAAA