Canonical Allele Identifier: CA2636264398

Gene: TTC19

Linked Data

• gnomAD v4: 17-16028846-A-AAAAAAAAAAAATT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028846_16028847insAAAAAAAAAAATT , CM000679.2:g.16028846_16028847insAAAAAAAAAAATT	GRCh38
NC_000017.10:g.15932160_15932161insAAAAAAAAAAATT , CM000679.1:g.15932160_15932161insAAAAAAAAAAATT	GRCh37
NC_000017.9:g.15872885_15872886insAAAAAAAAAAATT	NCBI36
NG_029806.1:g.34467_34468insAAAAAAAAAAATT
NG_047111.1:g.192900_192901insAATTTTTTTTTTT

Transcript Alleles

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