Canonical Allele Identifier: CA144481

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 56778
• ClinVar RCV Id: RCV000050191
• dbSNP Id: rs386834197
• gnomAD v2: 8-94821284-G-GA
• gnomAD v4: 8-93809056-G-GA
• MyVariant Identifiers: chr8:g.94821289dupA (hg19) ; chr8:g.94821284_94821285insA (hg19) ; chr8:g.93809061dupA (hg38) ; chr8:g.93809056_93809057insA (hg38)
• PubMed: PMID:20232449

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93809061dup , CM000670.2:g.93809061dup	GRCh38
NC_000008.10:g.94821289dup , CM000670.1:g.94821289dup	GRCh37
NC_000008.9:g.94890465dup	NCBI36
NG_009190.1:g.59218dup , LRG_688:g.59218dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2561dup	ENSP00000314488.4:p.Asn854LysfsTer5
ENST00000409623.8:c.2516dup	ENSP00000386966.4:p.Asn839LysfsTer5
ENST00000452276.6:c.2444dup	ENSP00000388671.2:p.Asn815LysfsTer5
ENST00000453906.6:c.1679dup	ENSP00000403035.2:p.Asn560LysfsTer5
ENST00000518896.2:c.852dup	ENSP00000507992.1:n.852dup
ENST00000520680.2:c.2684dup	ENSP00000428785.2:p.Asn895LysfsTer5
ENST00000521517.6:c.2462dup	ENSP00000430740.2:p.Asn821LysfsTer5
ENST00000681998.1:c.2382dup	ENSP00000506773.1:n.2382dup
ENST00000682036.1:c.1802dup	ENSP00000508390.1:p.Asn601LysfsTer5
ENST00000682577.1:c.2334dup	ENSP00000506963.1:n.2334dup
ENST00000682624.1:c.*2135dup	ENSP00000508343.1:n.*2135dup
ENST00000682700.1:c.2561dup	ENSP00000507627.1:p.Asn854LysfsTer5
ENST00000682744.1:n.2099dup
ENST00000682804.1:n.2384dup
ENST00000682837.1:c.2050dup	ENSP00000507920.1:n.2050dup
ENST00000682935.1:n.4611dup
ENST00000682984.1:c.2222dup	ENSP00000507209.1:p.Asn741LysfsTer5
ENST00000683078.1:c.2316dup	ENSP00000506796.1:n.2316dup
ENST00000683223.1:c.2293dup	ENSP00000507685.1:n.2293dup
ENST00000683238.1:n.3785dup
ENST00000683249.1:n.4158dup
ENST00000683336.1:c.2382dup	ENSP00000507695.1:n.2382dup
ENST00000683362.1:c.2222dup	ENSP00000506985.1:p.Asn741LysfsTer5
ENST00000683850.1:n.2484dup
ENST00000683919.1:c.2491dup	ENSP00000507617.1:n.2491dup
ENST00000683953.1:c.2472dup	ENSP00000508375.1:n.2472dup
ENST00000684023.1:c.2538dup	ENSP00000507461.1:n.2538dup
ENST00000684064.1:c.2252dup	ENSP00000508192.1:p.Asn751LysfsTer5
ENST00000684089.1:n.4111dup
ENST00000684149.1:c.*1740dup	ENSP00000507943.1:n.*1740dup
ENST00000684343.1:c.758dup	ENSP00000507591.1:p.Asn253LysfsTer5
ENST00000684416.1:n.2520dup
ENST00000684540.1:c.2491dup	ENSP00000507987.1:n.2491dup
ENST00000453321.8:c.2561dup MANE Select	ENSP00000389998.3:p.Asn854LysfsTer5
ENST00000323130.7:c.2531dup	ENSP00000314488.3:p.Asn844LysfsTer5
ENST00000409623.7:c.2318dup	ENSP00000386966.3:p.Asn773LysfsTer5
ENST00000453321.7:c.2561dup	ENSP00000389998.3:p.Asn854LysfsTer5
ENST00000474944.5:n.1699dup
ENST00000519845.5:n.1293dup
NM_001142301.1:c.2318dup , LRG_688t2:c.2318dup	NP_001135773.1:p.Asn773LysfsTer5
NM_153704.5:c.2561dup , LRG_688t1:c.2561dup	NP_714915.3:p.Asn854LysfsTer5
NR_024522.1:n.2632dup
XM_006716686.2:c.2258dup	XP_006716749.1:p.Asn753LysfsTer5
XM_006716687.2:c.1961dup	XP_006716750.1:p.Asn654LysfsTer5
XM_011517363.1:c.1679dup	XP_011515665.1:p.Asn560LysfsTer5
XR_428387.1:n.2619dup
XR_928360.1:n.2619dup
XR_928361.1:n.2619dup
XR_928362.1:n.2619dup
XM_006716686.4:c.2258dup	XP_006716749.1:p.Asn753LysfsTer5
XM_011517363.3:c.1679dup	XP_011515665.1:p.Asn560LysfsTer5
XM_024447326.1:c.1907dup	XP_024303094.1:p.Asn636LysfsTer5
XR_001745619.2:n.2602dup
XR_428387.2:n.2602dup
XR_928360.3:n.2602dup
XR_928362.3:n.2602dup
NM_153704.6:c.2561dup MANE Select	NP_714915.3:p.Asn854LysfsTer5
NR_024522.2:n.2582dup