Canonical Allele Identifier: CA2591248437
Gene: TTC6 HGNC NCBI

Linked Data

dbSNP Id: rs2139238249

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.37607941_37607942del , CM000676.2:g.37607941_37607942del GRCh38
NC_000014.8:g.38077146_38077147del , CM000676.1:g.38077146_38077147del GRCh37
NC_000014.7:g.37146897_37146898del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000553443.6:c.-16+1199_-16+1200del MANE Select ENSP00000451131.1:n.-16+1199_-16+1200del
ENST00000556845.1:c.-155+1199_-155+1200del ENSP00000450572.1:n.-155+1199_-155+1200del
NM_001310135.1:c.33+1199_33+1200del NP_001297064.1:n.33+1199_33+1200del
XM_011537432.1:c.33+1199_33+1200del XP_011535734.1:n.33+1199_33+1200del
XR_943762.1:n.890+1199_890+1200del
XM_011537432.2:c.33+1199_33+1200del XP_011535734.1:n.33+1199_33+1200del
XM_017021254.1:c.33+1199_33+1200del XP_016876743.1:n.33+1199_33+1200del
XM_017021255.1:c.33+1199_33+1200del XP_016876744.1:n.33+1199_33+1200del
XM_017021257.1:c.33+1199_33+1200del XP_016876746.1:n.33+1199_33+1200del
XM_024449560.1:c.33+1199_33+1200del XP_024305328.1:n.33+1199_33+1200del
XR_001750287.1:n.890+1199_890+1200del
XR_943762.2:n.890+1199_890+1200del
NM_001310135.2:c.33+1199_33+1200del NP_001297064.1:n.33+1199_33+1200del
NM_001310135.3:c.33+1199_33+1200del NP_001297064.1:n.33+1199_33+1200del
NM_001310135.5:c.-16+1199_-16+1200del MANE Select NP_001297064.2:n.-16+1199_-16+1200del