Canonical Allele Identifier: CA2249815028

Gene: TTC19

Linked Data

• dbSNP Id: rs1325328459
• gnomAD v3: 17-16000002-C-CGG
• gnomAD v4: 17-16000002-C-CGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16000005_16000006dup , CM000679.2:g.16000005_16000006dup	GRCh38
NC_000017.10:g.15903319_15903320dup , CM000679.1:g.15903319_15903320dup	GRCh37
NC_000017.9:g.15844044_15844045dup	NCBI36
NG_029806.1:g.5626_5627dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.157_158dup MANE Select	ENSP00000261647.5:p.Pro54AlafsTer?
ENST00000261647.9:c.157_158dup	ENSP00000261647.5:p.Pro54AlafsTer?
ENST00000466729.5:c.222_223dup
ENST00000470399.1:c.172_173dup	ENSP00000465082.1:p.Pro59AlafsTer?
ENST00000475723.5:c.204_205dup
ENST00000497842.6:n.182_183dup
ENST00000583704.1:n.182_183dup
NM_001271420.1:c.-302_-301dup	NP_001258349.1:n.-302_-301dup
NM_017775.3:c.157_158dup	NP_060245.3:p.Pro54AlafsTer?
XM_011523950.1:c.157_158dup	XP_011522252.1:p.Pro54AlafsTer?
XM_017024801.2:c.157_158dup	XP_016880290.2:p.Pro54AlafsTer?
XM_017024802.2:c.157_158dup	XP_016880291.2:p.Pro54AlafsTer?
XM_024450814.1:c.157_158dup	XP_024306582.1:p.Pro54AlafsTer?
NM_017775.4:c.157_158dup MANE Select	NP_060245.3:p.Pro54AlafsTer?
NM_001271420.2:c.-302_-301dup	NP_001258349.1:n.-302_-301dup