Canonical Allele Identifier: CA2636262382

Gene: TTC19

Linked Data

• gnomAD v4: 17-16027513-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027515dup , CM000679.2:g.16027515dup	GRCh38
NC_000017.10:g.15930829dup , CM000679.1:g.15930829dup	GRCh37
NC_000017.9:g.15871554dup	NCBI36
NG_029806.1:g.33136dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.1136dup MANE Select	ENSP00000261647.5:p.Leu380AlafsTer13
ENST00000261647.9:c.1136dup	ENSP00000261647.5:p.Leu380AlafsTer13
ENST00000465567.1:n.1530dup
ENST00000470649.1:c.247+813dup	ENSP00000465627.1:n.247+813dup
ENST00000475723.5:c.1320dup
ENST00000481107.1:n.1804dup
ENST00000497842.6:n.1340dup
NM_001271420.1:c.815dup	NP_001258349.1:p.Leu273AlafsTer13
NM_017775.3:c.1136dup	NP_060245.3:p.Leu380AlafsTer13
XM_017024801.2:c.994+813dup	XP_016880290.2:n.994+813dup
XM_017024802.2:c.994+813dup	XP_016880291.2:n.994+813dup
NM_017775.4:c.1136dup MANE Select	NP_060245.3:p.Leu380AlafsTer13
NM_001271420.2:c.815dup	NP_001258349.1:p.Leu273AlafsTer13