Canonical Allele Identifier: CA2636264141

Gene: TTC19

Linked Data

• gnomAD v4: 17-16028830-A-AAAAAAAAAAAAAAAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028845_16028846insCAAAAAAAAAAAAAAA , CM000679.2:g.16028845_16028846insCAAAAAAAAAAAAAAA	GRCh38
NC_000017.10:g.15932159_15932160insCAAAAAAAAAAAAAAA , CM000679.1:g.15932159_15932160insCAAAAAAAAAAAAAAA	GRCh37
NC_000017.9:g.15872884_15872885insCAAAAAAAAAAAAAAA	NCBI36
NG_029806.1:g.34466_34467insCAAAAAAAAAAAAAAA
NG_047111.1:g.192916_192917insGTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*1323_*1324insCAAAAAAAAAAAAAAA MANE Select	ENSP00000261647.5:n.*1323_*1324insCAAAAAAAAAAAAAAA
ENST00000261647.9:c.*1323_*1324insCAAAAAAAAAAAAAAA	ENSP00000261647.5:n.*1323_*1324insCAAAAAAAAAAAAAAA
ENST00000470649.1:c.247+2143_247+2144insCAAAAAAAAAAAAAAA	ENSP00000465627.1:n.247+2143_247+2144insCAAAAAAAAAAAAAAA
NM_001271420.1:c.*1323_*1324insCAAAAAAAAAAAAAAA	NP_001258349.1:n.*1323_*1324insCAAAAAAAAAAAAAAA
NM_017775.3:c.*1323_*1324insCAAAAAAAAAAAAAAA	NP_060245.3:n.*1323_*1324insCAAAAAAAAAAAAAAA
XM_017024801.2:c.994+2143_994+2144insCAAAAAAAAAAAAAAA	XP_016880290.2:n.994+2143_994+2144insCAAAAAAAAAAAAAAA
XM_017024802.2:c.994+2143_994+2144insCAAAAAAAAAAAAAAA	XP_016880291.2:n.994+2143_994+2144insCAAAAAAAAAAAAAAA
NM_017775.4:c.*1323_*1324insCAAAAAAAAAAAAAAA MANE Select	NP_060245.3:n.*1323_*1324insCAAAAAAAAAAAAAAA
NM_001271420.2:c.*1323_*1324insCAAAAAAAAAAAAAAA	NP_001258349.1:n.*1323_*1324insCAAAAAAAAAAAAAAA