Canonical Allele Identifier: CA2636263954

Gene: TTC19

Linked Data

• gnomAD v4: 17-16028818-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028846_16028847insAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000679.2:g.16028846_16028847insAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000017.10:g.15932160_15932161insAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000679.1:g.15932160_15932161insAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000017.9:g.15872885_15872886insAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_029806.1:g.34467_34468insAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NG_047111.1:g.192928_192929insTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

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