Canonical Allele Identifier: CA2636263021

Gene: TTC19

Linked Data

• gnomAD v4: 17-16028787-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028787_16028788insC , CM000679.2:g.16028787_16028788insC	GRCh38
NC_000017.10:g.15932101_15932102insC , CM000679.1:g.15932101_15932102insC	GRCh37
NC_000017.9:g.15872826_15872827insC	NCBI36
NG_029806.1:g.34408_34409insC
NG_047111.1:g.192959_192960insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000261647.10:c.*1265_*1266insC MANE Select	ENSP00000261647.5:n.*1265_*1266insC
ENST00000261647.9:c.*1265_*1266insC	ENSP00000261647.5:n.*1265_*1266insC
ENST00000470649.1:c.247+2085_247+2086insC	ENSP00000465627.1:n.247+2085_247+2086insC
NM_001271420.1:c.*1265_*1266insC	NP_001258349.1:n.*1265_*1266insC
NM_017775.3:c.*1265_*1266insC	NP_060245.3:n.*1265_*1266insC
XM_017024801.2:c.994+2085_994+2086insC	XP_016880290.2:n.994+2085_994+2086insC
XM_017024802.2:c.994+2085_994+2086insC	XP_016880291.2:n.994+2085_994+2086insC
NM_017775.4:c.*1265_*1266insC MANE Select	NP_060245.3:n.*1265_*1266insC
NM_001271420.2:c.*1265_*1266insC	NP_001258349.1:n.*1265_*1266insC