Canonical Allele Identifier: CA2636263919

Gene: TTC19

Linked Data

• gnomAD v4: 17-16028818-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTCTGAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028846_16028847insAAAAAAAAAAAAATTTCTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000679.2:g.16028846_16028847insAAAAAAAAAAAAATTTCTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000017.10:g.15932160_15932161insAAAAAAAAAAAAATTTCTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000679.1:g.15932160_15932161insAAAAAAAAAAAAATTTCTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000017.9:g.15872885_15872886insAAAAAAAAAAAAATTTCTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_029806.1:g.34467_34468insAAAAAAAAAAAAATTTCTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NG_047111.1:g.192928_192929insTTTTTTTTTTCAGAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*1324_*1325insAAAAAAAAAAAAATTTCTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000261647.5:n.*1324_*1325insAAAAAAAAAAAAATTTCTGAAAAAAAA...
ENST00000261647.9:c.*1324_*1325insAAAAAAAAAAAAATTTCTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000261647.5:n.*1324_*1325insAAAAAAAAAAAAATTTCTGAAAAAAAA...
ENST00000470649.1:c.247+2144_247+2145insAAAAAAAAAAAAATTTCTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000465627.1:n.247+2144_247+2145insAAAAAAAAAAAAATTTCTGAA...
NM_001271420.1:c.*1324_*1325insAAAAAAAAAAAAATTTCTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001258349.1:n.*1324_*1325insAAAAAAAAAAAAATTTCTGAAAAAAAAAAA...
NM_017775.3:c.*1324_*1325insAAAAAAAAAAAAATTTCTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_060245.3:n.*1324_*1325insAAAAAAAAAAAAATTTCTGAAAAAAAAAAAAAA...
XM_017024801.2:c.994+2144_994+2145insAAAAAAAAAAAAATTTCTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016880290.2:n.994+2144_994+2145insAAAAAAAAAAAAATTTCTGAAAAA...
XM_017024802.2:c.994+2144_994+2145insAAAAAAAAAAAAATTTCTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016880291.2:n.994+2144_994+2145insAAAAAAAAAAAAATTTCTGAAAAA...
NM_017775.4:c.*1324_*1325insAAAAAAAAAAAAATTTCTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_060245.3:n.*1324_*1325insAAAAAAAAAAAAATTTCTGAAAAAAAAAAAAAA...
NM_001271420.2:c.*1324_*1325insAAAAAAAAAAAAATTTCTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001258349.1:n.*1324_*1325insAAAAAAAAAAAAATTTCTGAAAAAAAAAAA...