Canonical Allele Identifier: CA2636263014

Gene: TTC19

Linked Data

• gnomAD v4: 17-16028748-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028750del , CM000679.2:g.16028750del	GRCh38
NC_000017.10:g.15932064del , CM000679.1:g.15932064del	GRCh37
NC_000017.9:g.15872789del	NCBI36
NG_029806.1:g.34371del
NG_047111.1:g.192998del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261647.10:c.*1228del MANE Select	ENSP00000261647.5:n.*1228del
ENST00000261647.9:c.*1228del	ENSP00000261647.5:n.*1228del
ENST00000465567.1:n.2765del
ENST00000470649.1:c.247+2048del	ENSP00000465627.1:n.247+2048del
ENST00000475723.5:c.2555del
ENST00000481107.1:n.3039del
NM_001271420.1:c.*1228del	NP_001258349.1:n.*1228del
NM_017775.3:c.*1228del	NP_060245.3:n.*1228del
XM_017024801.2:c.994+2048del	XP_016880290.2:n.994+2048del
XM_017024802.2:c.994+2048del	XP_016880291.2:n.994+2048del
NM_017775.4:c.*1228del MANE Select	NP_060245.3:n.*1228del
NM_001271420.2:c.*1228del	NP_001258349.1:n.*1228del