Canonical Allele Identifier: CA2636262434

Gene: TTC19

Linked Data

• gnomAD v4: 17-16027667-GTACACACTGCCATTTTTGTATTTTAAAGGAAAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027669_16027702del , CM000679.2:g.16027669_16027702del	GRCh38
NC_000017.10:g.15930983_15931016del , CM000679.1:g.15930983_15931016del	GRCh37
NC_000017.9:g.15871708_15871741del	NCBI36
NG_029806.1:g.33290_33323del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*147_*180del MANE Select	ENSP00000261647.5:n.*147_*180del
ENST00000261647.9:c.*147_*180del	ENSP00000261647.5:n.*147_*180del
ENST00000465567.1:n.1684_1717del
ENST00000470649.1:c.247+967_247+1000del	ENSP00000465627.1:n.247+967_247+1000del
ENST00000475723.5:c.1474_1507del
ENST00000481107.1:n.1958_1991del
NM_001271420.1:c.*147_*180del	NP_001258349.1:n.*147_*180del
NM_017775.3:c.*147_*180del	NP_060245.3:n.*147_*180del
XM_017024801.2:c.994+967_994+1000del	XP_016880290.2:n.994+967_994+1000del
XM_017024802.2:c.994+967_994+1000del	XP_016880291.2:n.994+967_994+1000del
NM_017775.4:c.*147_*180del MANE Select	NP_060245.3:n.*147_*180del
NM_001271420.2:c.*147_*180del	NP_001258349.1:n.*147_*180del