Canonical Allele Identifier: CA981832465

Gene: TTC19

Linked Data

• gnomAD v3: 17-16028818-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAATATAAATAAAAAAAAAAAAAAAA
• gnomAD v4: 17-16028818-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAATATAAATAAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028846_16028847insAAAAAAAAAAAATAAAAAAAAAAAAAAAAAATATAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000679.2:g.16028846_16028847insAAAAAAAAAAAATAAAAAAAAAAAAAAAAAATATAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000017.10:g.15932160_15932161insAAAAAAAAAAAATAAAAAAAAAAAAAAAAAATATAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000679.1:g.15932160_15932161insAAAAAAAAAAAATAAAAAAAAAAAAAAAAAATATAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000017.9:g.15872885_15872886insAAAAAAAAAAAATAAAAAAAAAAAAAAAAAATATAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_029806.1:g.34467_34468insAAAAAAAAAAAATAAAAAAAAAAAAAAAAAATATAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NG_047111.1:g.192928_192929insTTTTTTTTTTTTTTTTATTTATATTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

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