Canonical Allele Identifier: CA2129940144

Gene: TTC6

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.37607686_37607689delinsTGGG , CM000676.2:g.37607686_37607689delinsTGGG	GRCh38
NC_000014.8:g.38076891_38076894delinsTGGG , CM000676.1:g.38076891_38076894delinsTGGG	GRCh37
NC_000014.7:g.37146642_37146645delinsTGGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553443.6:c.-16+944_-16+947delinsTGGG MANE Select	ENSP00000451131.1:n.-16+944_-16+947delinsTGGG
ENST00000556845.1:c.-155+944_-155+947delinsTGGG	ENSP00000450572.1:n.-155+944_-155+947delinsTGGG
NM_001310135.1:c.33+944_33+947delinsTGGG	NP_001297064.1:n.33+944_33+947delinsTGGG
XM_011537432.1:c.33+944_33+947delinsTGGG	XP_011535734.1:n.33+944_33+947delinsTGGG
XR_943762.1:n.890+944_890+947delinsTGGG
XM_011537432.2:c.33+944_33+947delinsTGGG	XP_011535734.1:n.33+944_33+947delinsTGGG
XM_017021254.1:c.33+944_33+947delinsTGGG	XP_016876743.1:n.33+944_33+947delinsTGGG
XM_017021255.1:c.33+944_33+947delinsTGGG	XP_016876744.1:n.33+944_33+947delinsTGGG
XM_017021257.1:c.33+944_33+947delinsTGGG	XP_016876746.1:n.33+944_33+947delinsTGGG
XM_024449560.1:c.33+944_33+947delinsTGGG	XP_024305328.1:n.33+944_33+947delinsTGGG
XR_001750287.1:n.890+944_890+947delinsTGGG
XR_943762.2:n.890+944_890+947delinsTGGG
NM_001310135.2:c.33+944_33+947delinsTGGG	NP_001297064.1:n.33+944_33+947delinsTGGG
NM_001310135.3:c.33+944_33+947delinsTGGG	NP_001297064.1:n.33+944_33+947delinsTGGG
NM_001310135.5:c.-16+944_-16+947delinsTGGG MANE Select	NP_001297064.2:n.-16+944_-16+947delinsTGGG