Canonical Allele Identifier: CA2636263448

Gene: TTC19

Linked Data

• gnomAD v4: 17-16028818-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028846_16028847insAAAAAAAAAATTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000679.2:g.16028846_16028847insAAAAAAAAAATTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000017.10:g.15932160_15932161insAAAAAAAAAATTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000679.1:g.15932160_15932161insAAAAAAAAAATTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000017.9:g.15872885_15872886insAAAAAAAAAATTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_029806.1:g.34467_34468insAAAAAAAAAATTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NG_047111.1:g.192928_192929insTTTTTTAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

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