Canonical Allele Identifier: CA2636262423

Gene: TTC19

Linked Data

• gnomAD v4: 17-16027649-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027651del , CM000679.2:g.16027651del	GRCh38
NC_000017.10:g.15930965del , CM000679.1:g.15930965del	GRCh37
NC_000017.9:g.15871690del	NCBI36
NG_029806.1:g.33272del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*129del MANE Select	ENSP00000261647.5:n.*129del
ENST00000261647.9:c.*129del	ENSP00000261647.5:n.*129del
ENST00000465567.1:n.1666del
ENST00000470649.1:c.247+949del	ENSP00000465627.1:n.247+949del
ENST00000475723.5:c.1456del
ENST00000481107.1:n.1940del
NM_001271420.1:c.*129del	NP_001258349.1:n.*129del
NM_017775.3:c.*129del	NP_060245.3:n.*129del
XM_017024801.2:c.994+949del	XP_016880290.2:n.994+949del
XM_017024802.2:c.994+949del	XP_016880291.2:n.994+949del
NM_017775.4:c.*129del MANE Select	NP_060245.3:n.*129del
NM_001271420.2:c.*129del	NP_001258349.1:n.*129del