Canonical Allele Identifier: CA583407066

Gene: TMEM67

Linked Data

• dbSNP Id: rs1306266549
• gnomAD v2: 8-94770741-AT-A
• gnomAD v4: 8-93758513-AT-A
• MyVariant Identifiers: chr8:g.94770742del (hg19) ; chr8:g.93758514del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758516del , CM000670.2:g.93758516del	GRCh38
NC_000008.10:g.94770744del , CM000670.1:g.94770744del	GRCh37
NC_000008.9:g.94839920del	NCBI36
NG_009190.1:g.8673del , LRG_688:g.8673del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.346del	ENSP00000314488.4:p.Ser116LeufsTer6
ENST00000409623.8:c.346del	ENSP00000386966.4:p.Ser116LeufsTer6
ENST00000452276.6:c.346del	ENSP00000388671.2:p.Ser116LeufsTer6
ENST00000453906.6:c.346del	ENSP00000403035.2:p.Ser116LeufsTer6
ENST00000520680.2:c.346del	ENSP00000428785.2:p.Ser116LeufsTer6
ENST00000521065.2:c.346del	ENSP00000427947.2:p.Ser116LeufsTer6
ENST00000521517.6:c.346del	ENSP00000430740.2:p.Ser116LeufsTer6
ENST00000681998.1:c.346del	ENSP00000506773.1:p.Ser116LeufsTer6
ENST00000682036.1:c.346del	ENSP00000508390.1:p.Ser116LeufsTer6
ENST00000682577.1:c.346del	ENSP00000506963.1:p.Ser116LeufsTer6
ENST00000682624.1:c.257del	ENSP00000508343.1:p.Phe86SerfsTer?
ENST00000682700.1:c.346del	ENSP00000507627.1:p.Ser116LeufsTer6
ENST00000682804.1:n.239del
ENST00000682837.1:c.346del	ENSP00000507920.1:p.Ser116LeufsTer6
ENST00000682935.1:n.346del
ENST00000682984.1:c.312+2650del	ENSP00000507209.1:n.312+2650del
ENST00000683078.1:c.346del	ENSP00000506796.1:p.Ser116LeufsTer6
ENST00000683223.1:c.257del	ENSP00000507685.1:p.Phe86SerfsTer?
ENST00000683238.1:n.167del
ENST00000683249.1:n.367del
ENST00000683336.1:c.346del	ENSP00000507695.1:p.Ser116LeufsTer6
ENST00000683362.1:c.312+2650del	ENSP00000506985.1:n.312+2650del
ENST00000683850.1:n.269del
ENST00000683919.1:c.346del	ENSP00000507617.1:p.Ser116LeufsTer6
ENST00000683953.1:c.257del	ENSP00000508375.1:p.Phe86SerfsTer?
ENST00000684023.1:c.346del	ENSP00000507461.1:p.Ser116LeufsTer6
ENST00000684064.1:c.37del	ENSP00000508192.1:p.Ser13LeufsTer6
ENST00000684089.1:n.336del
ENST00000684149.1:c.346del	ENSP00000507943.1:p.Ser116LeufsTer6
ENST00000684416.1:n.171del
ENST00000684540.1:c.346del	ENSP00000507987.1:p.Ser116LeufsTer6
ENST00000684733.1:n.281del
ENST00000453321.8:c.346del MANE Select	ENSP00000389998.3:p.Ser116LeufsTer6
ENST00000323130.7:c.316del	ENSP00000314488.3:p.Ser106LeufsTer6
ENST00000409623.7:c.-32del	ENSP00000386966.3:n.-32del
ENST00000452276.5:c.37del	ENSP00000388671.1:p.Ser13LeufsTer6
ENST00000453321.7:c.346del	ENSP00000389998.3:p.Ser116LeufsTer6
ENST00000453906.5:c.346del	ENSP00000403035.1:p.Ser116LeufsTer6
ENST00000455946.5:c.346del	ENSP00000416339.1:p.Ser116LeufsTer6
ENST00000474944.5:n.366del
ENST00000475305.1:n.355del
ENST00000498673.5:c.-135del	ENSP00000430232.1:n.-135del
ENST00000518319.5:c.-174del	ENSP00000430289.1:n.-174del
ENST00000521065.1:c.252del
ENST00000521222.5:c.342del	ENSP00000429925.1:p.Ala116ProfsTer2
ENST00000521517.5:c.338del
NM_001142301.1:c.-32del , LRG_688t2:c.-32del	NP_001135773.1:n.-32del
NM_153704.5:c.346del , LRG_688t1:c.346del	NP_714915.3:p.Ser116LeufsTer6
NR_024522.1:n.417del
XM_006716686.2:c.43del	XP_006716749.1:p.Ser15LeufsTer6
XM_011517363.1:c.346del	XP_011515665.1:p.Ser116LeufsTer6
XR_428387.1:n.404del
XR_928360.1:n.404del
XR_928361.1:n.404del
XR_928362.1:n.404del
XM_006716686.4:c.43del	XP_006716749.1:p.Ser15LeufsTer6
XM_011517363.3:c.346del	XP_011515665.1:p.Ser116LeufsTer6
XM_024447326.1:c.-64del	XP_024303094.1:n.-64del
XR_001745619.2:n.387del
XR_428387.2:n.387del
XR_928360.3:n.387del
XR_928362.3:n.387del
NM_153704.6:c.346del MANE Select	NP_714915.3:p.Ser116LeufsTer6
NR_024522.2:n.367del