Canonical Allele Identifier: CA613566660

Gene: TTC6

Linked Data

• dbSNP Id: rs1274945903
• gnomAD v2: 14-38077422-CAT-C
• gnomAD v3: 14-37608217-CAT-C
• gnomAD v4: 14-37608217-CAT-C
• MyVariant Identifiers: chr14:g.38077423_38077424del (hg19) ; chr14:g.37608218_37608219del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.37608218_37608219del , CM000676.2:g.37608218_37608219del	GRCh38
NC_000014.8:g.38077423_38077424del , CM000676.1:g.38077423_38077424del	GRCh37
NC_000014.7:g.37147174_37147175del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553443.6:c.-16+1476_-16+1477del MANE Select	ENSP00000451131.1:n.-16+1476_-16+1477del
ENST00000556845.1:c.-155+1476_-155+1477del	ENSP00000450572.1:n.-155+1476_-155+1477del
NM_001310135.1:c.33+1476_33+1477del	NP_001297064.1:n.33+1476_33+1477del
XM_011537432.1:c.33+1476_33+1477del	XP_011535734.1:n.33+1476_33+1477del
XR_943762.1:n.890+1476_890+1477del
XM_011537432.2:c.33+1476_33+1477del	XP_011535734.1:n.33+1476_33+1477del
XM_017021254.1:c.33+1476_33+1477del	XP_016876743.1:n.33+1476_33+1477del
XM_017021255.1:c.33+1476_33+1477del	XP_016876744.1:n.33+1476_33+1477del
XM_017021257.1:c.33+1476_33+1477del	XP_016876746.1:n.33+1476_33+1477del
XM_024449560.1:c.33+1476_33+1477del	XP_024305328.1:n.33+1476_33+1477del
XR_001750287.1:n.890+1476_890+1477del
XR_943762.2:n.890+1476_890+1477del
NM_001310135.2:c.33+1476_33+1477del	NP_001297064.1:n.33+1476_33+1477del
NM_001310135.3:c.33+1476_33+1477del	NP_001297064.1:n.33+1476_33+1477del
NM_001310135.5:c.-16+1476_-16+1477del MANE Select	NP_001297064.2:n.-16+1476_-16+1477del