Canonical Allele Identifier: CA705388763

Gene: TTC6

Linked Data

• dbSNP Id: rs1316329147
• gnomAD v3: 14-37607944-TCTTA-T
• gnomAD v4: 14-37607944-TCTTA-T
• MyVariant Identifiers: chr14:g.38077150_38077153del (hg19) ; chr14:g.37607945_37607948del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.37607947_37607950del , CM000676.2:g.37607947_37607950del	GRCh38
NC_000014.8:g.38077152_38077155del , CM000676.1:g.38077152_38077155del	GRCh37
NC_000014.7:g.37146903_37146906del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000553443.6:c.-16+1205_-16+1208del MANE Select	ENSP00000451131.1:n.-16+1205_-16+1208del
ENST00000556845.1:c.-155+1205_-155+1208del	ENSP00000450572.1:n.-155+1205_-155+1208de...
NM_001310135.1:c.33+1205_33+1208del	NP_001297064.1:n.33+1205_33+1208del
XM_011537432.1:c.33+1205_33+1208del	XP_011535734.1:n.33+1205_33+1208del
XR_943762.1:n.890+1205_890+1208del
XM_011537432.2:c.33+1205_33+1208del	XP_011535734.1:n.33+1205_33+1208del
XM_017021254.1:c.33+1205_33+1208del	XP_016876743.1:n.33+1205_33+1208del
XM_017021255.1:c.33+1205_33+1208del	XP_016876744.1:n.33+1205_33+1208del
XM_017021257.1:c.33+1205_33+1208del	XP_016876746.1:n.33+1205_33+1208del
XM_024449560.1:c.33+1205_33+1208del	XP_024305328.1:n.33+1205_33+1208del
XR_001750287.1:n.890+1205_890+1208del
XR_943762.2:n.890+1205_890+1208del
NM_001310135.2:c.33+1205_33+1208del	NP_001297064.1:n.33+1205_33+1208del
NM_001310135.3:c.33+1205_33+1208del	NP_001297064.1:n.33+1205_33+1208del
NM_001310135.5:c.-16+1205_-16+1208del MANE Select	NP_001297064.2:n.-16+1205_-16+1208del