Canonical Allele Identifier: CA726464194

Gene: TTC19

Linked Data

• dbSNP Id: rs1308263300
• gnomAD v3: 17-16028494-G-GTATT
• gnomAD v4: 17-16028494-G-GTATT
• MyVariant Identifiers: chr17:g.15931808_15931809insTATT (hg19) ; chr17:g.16028494_16028495insTATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028496_16028499dup , CM000679.2:g.16028496_16028499dup	GRCh38
NC_000017.10:g.15931810_15931813dup , CM000679.1:g.15931810_15931813dup	GRCh37
NC_000017.9:g.15872535_15872538dup	NCBI36
NG_029806.1:g.34117_34120dup
NG_047111.1:g.193249_193252dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*974_*977dup MANE Select	ENSP00000261647.5:n.*974_*977dup
ENST00000261647.9:c.*974_*977dup	ENSP00000261647.5:n.*974_*977dup
ENST00000465567.1:n.2511_2514dup
ENST00000470649.1:c.247+1794_247+1797dup	ENSP00000465627.1:n.247+1794_247+1797dup
ENST00000475723.5:c.2301_2304dup
ENST00000481107.1:n.2785_2788dup
NM_001271420.1:c.*974_*977dup	NP_001258349.1:n.*974_*977dup
NM_017775.3:c.*974_*977dup	NP_060245.3:n.*974_*977dup
XM_017024801.2:c.994+1794_994+1797dup	XP_016880290.2:n.994+1794_994+1797dup
XM_017024802.2:c.994+1794_994+1797dup	XP_016880291.2:n.994+1794_994+1797dup
NM_017775.4:c.*974_*977dup MANE Select	NP_060245.3:n.*974_*977dup
NM_001271420.2:c.*974_*977dup	NP_001258349.1:n.*974_*977dup