Canonical Allele Identifier: CA2636263048

Gene: TTC19

Linked Data

• gnomAD v4: 17-16028817-T-TGAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028817_16028818insGAAAAAA , CM000679.2:g.16028817_16028818insGAAAAAA	GRCh38
NC_000017.10:g.15932131_15932132insGAAAAAA , CM000679.1:g.15932131_15932132insGAAAAAA	GRCh37
NC_000017.9:g.15872856_15872857insGAAAAAA	NCBI36
NG_029806.1:g.34438_34439insGAAAAAA
NG_047111.1:g.192929_192930insTTTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*1295_*1296insGAAAAAA MANE Select	ENSP00000261647.5:n.*1295_*1296insGAAAAAA
ENST00000261647.9:c.*1295_*1296insGAAAAAA	ENSP00000261647.5:n.*1295_*1296insGAAAAAA
ENST00000470649.1:c.247+2115_247+2116insGAAAAAA	ENSP00000465627.1:n.247+2115_247+2116insGAAAAAA
NM_001271420.1:c.*1295_*1296insGAAAAAA	NP_001258349.1:n.*1295_*1296insGAAAAAA
NM_017775.3:c.*1295_*1296insGAAAAAA	NP_060245.3:n.*1295_*1296insGAAAAAA
XM_017024801.2:c.994+2115_994+2116insGAAAAAA	XP_016880290.2:n.994+2115_994+2116insGAAAAAA
XM_017024802.2:c.994+2115_994+2116insGAAAAAA	XP_016880291.2:n.994+2115_994+2116insGAAAAAA
NM_017775.4:c.*1295_*1296insGAAAAAA MANE Select	NP_060245.3:n.*1295_*1296insGAAAAAA
NM_001271420.2:c.*1295_*1296insGAAAAAA	NP_001258349.1:n.*1295_*1296insGAAAAAA