Canonical Allele Identifier: CA2636264378

Gene: TTC19

Linked Data

• gnomAD v4: 17-16028846-A-AAAAAAAAAAAAAAAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028846_16028847insAAAAAAAAAAAAAAAT , CM000679.2:g.16028846_16028847insAAAAAAAAAAAAAAAT	GRCh38
NC_000017.10:g.15932160_15932161insAAAAAAAAAAAAAAAT , CM000679.1:g.15932160_15932161insAAAAAAAAAAAAAAAT	GRCh37
NC_000017.9:g.15872885_15872886insAAAAAAAAAAAAAAAT	NCBI36
NG_029806.1:g.34467_34468insAAAAAAAAAAAAAAAT
NG_047111.1:g.192900_192901insATTTTTTTTTTTTTTT

Transcript Alleles

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