Canonical Allele Identifier: CA2506766374
Gene: TTC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.37608121_37608122insAA , CM000676.2:g.37608121_37608122insAA GRCh38
NC_000014.8:g.38077326_38077327insAA , CM000676.1:g.38077326_38077327insAA GRCh37
NC_000014.7:g.37147077_37147078insAA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000553443.6:c.-16+1379_-16+1380insAA MANE Select ENSP00000451131.1:n.-16+1379_-16+1380insAA
ENST00000556845.1:c.-155+1379_-155+1380insAA ENSP00000450572.1:n.-155+1379_-155+1380insAA
NM_001310135.1:c.33+1379_33+1380insAA NP_001297064.1:n.33+1379_33+1380insAA
XM_011537432.1:c.33+1379_33+1380insAA XP_011535734.1:n.33+1379_33+1380insAA
XR_943762.1:n.890+1379_890+1380insAA
XM_011537432.2:c.33+1379_33+1380insAA XP_011535734.1:n.33+1379_33+1380insAA
XM_017021254.1:c.33+1379_33+1380insAA XP_016876743.1:n.33+1379_33+1380insAA
XM_017021255.1:c.33+1379_33+1380insAA XP_016876744.1:n.33+1379_33+1380insAA
XM_017021257.1:c.33+1379_33+1380insAA XP_016876746.1:n.33+1379_33+1380insAA
XM_024449560.1:c.33+1379_33+1380insAA XP_024305328.1:n.33+1379_33+1380insAA
XR_001750287.1:n.890+1379_890+1380insAA
XR_943762.2:n.890+1379_890+1380insAA
NM_001310135.2:c.33+1379_33+1380insAA NP_001297064.1:n.33+1379_33+1380insAA
NM_001310135.3:c.33+1379_33+1380insAA NP_001297064.1:n.33+1379_33+1380insAA
NM_001310135.5:c.-16+1379_-16+1380insAA MANE Select NP_001297064.2:n.-16+1379_-16+1380insAA