Canonical Allele Identifier: CA2636263648

Gene: TTC19

Linked Data

• gnomAD v4: 17-16028818-CAAAAAAAAAAAAAAAAAAAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028826_16028846del , CM000679.2:g.16028826_16028846del	GRCh38
NC_000017.10:g.15932140_15932160del , CM000679.1:g.15932140_15932160del	GRCh37
NC_000017.9:g.15872865_15872885del	NCBI36
NG_029806.1:g.34447_34467del
NG_047111.1:g.192908_192928del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*1304_*1324del MANE Select	ENSP00000261647.5:n.*1304_*1324del
ENST00000261647.9:c.*1304_*1324del	ENSP00000261647.5:n.*1304_*1324del
ENST00000470649.1:c.247+2124_247+2144del	ENSP00000465627.1:n.247+2124_247+2144del
NM_001271420.1:c.*1304_*1324del	NP_001258349.1:n.*1304_*1324del
NM_017775.3:c.*1304_*1324del	NP_060245.3:n.*1304_*1324del
XM_017024801.2:c.994+2124_994+2144del	XP_016880290.2:n.994+2124_994+2144del
XM_017024802.2:c.994+2124_994+2144del	XP_016880291.2:n.994+2124_994+2144del
NM_017775.4:c.*1304_*1324del MANE Select	NP_060245.3:n.*1304_*1324del
NM_001271420.2:c.*1304_*1324del	NP_001258349.1:n.*1304_*1324del