Canonical Allele Identifier: CA2687919725

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93780599-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780601del , CM000670.2:g.93780601del	GRCh38
NC_000008.10:g.94792829del , CM000670.1:g.94792829del	GRCh37
NC_000008.9:g.94862005del	NCBI36
NG_009190.1:g.30758del , LRG_688:g.30758del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.723del	ENSP00000314488.4:p.Asn242IlefsTer2
ENST00000409623.8:c.723del	ENSP00000386966.4:p.Asn242IlefsTer2
ENST00000452276.6:c.723del	ENSP00000388671.2:p.Asn242IlefsTer2
ENST00000453906.6:c.407-5622del	ENSP00000403035.2:n.407-5622del
ENST00000520680.2:c.723del	ENSP00000428785.2:p.Asn242IlefsTer2
ENST00000521065.2:c.*440del	ENSP00000427947.2:n.*440del
ENST00000521517.6:c.723del	ENSP00000430740.2:p.Asn242IlefsTer2
ENST00000681998.1:c.653del	ENSP00000506773.1:n.653del
ENST00000682036.1:c.407-5622del	ENSP00000508390.1:n.407-5622del
ENST00000682577.1:c.653del	ENSP00000506963.1:n.653del
ENST00000682624.1:c.*297del	ENSP00000508343.1:n.*297del
ENST00000682700.1:c.723del	ENSP00000507627.1:p.Asn242IlefsTer2
ENST00000682744.1:n.261del
ENST00000682804.1:n.546del
ENST00000682837.1:c.478del	ENSP00000507920.1:p.Gln160AsnfsTer?
ENST00000682935.1:n.2283del
ENST00000682984.1:c.384del	ENSP00000507209.1:p.Asn129IlefsTer2
ENST00000683078.1:c.478del	ENSP00000506796.1:p.Gln160AsnfsTer?
ENST00000683223.1:c.564del	ENSP00000507685.1:n.564del
ENST00000683238.1:n.2104del
ENST00000683249.1:n.2304del
ENST00000683336.1:c.653del	ENSP00000507695.1:n.653del
ENST00000683362.1:c.384del	ENSP00000506985.1:p.Asn129IlefsTer2
ENST00000683850.1:n.646del
ENST00000683919.1:c.653del	ENSP00000507617.1:n.653del
ENST00000683953.1:c.634del	ENSP00000508375.1:n.634del
ENST00000684023.1:c.857del	ENSP00000507461.1:n.857del
ENST00000684064.1:c.414del	ENSP00000508192.1:p.Asn139IlefsTer2
ENST00000684089.1:n.2273del
ENST00000684149.1:c.*59del	ENSP00000507943.1:n.*59del
ENST00000684416.1:n.682del
ENST00000684540.1:c.653del	ENSP00000507987.1:n.653del
ENST00000453321.8:c.723del MANE Select	ENSP00000389998.3:p.Asn242IlefsTer2
ENST00000323130.7:c.693del	ENSP00000314488.3:p.Asn232IlefsTer2
ENST00000409623.7:c.480del	ENSP00000386966.3:p.Asn161IlefsTer2
ENST00000425545.2:n.170del
ENST00000452276.5:c.414del	ENSP00000388671.1:p.Asn139IlefsTer2
ENST00000453321.7:c.723del	ENSP00000389998.3:p.Asn242IlefsTer2
ENST00000453906.5:c.407-5622del	ENSP00000403035.1:n.407-5622del
ENST00000474944.5:n.427-5622del
ENST00000496213.5:n.188del
NM_001142301.1:c.480del , LRG_688t2:c.480del	NP_001135773.1:p.Asn161IlefsTer2
NM_153704.5:c.723del , LRG_688t1:c.723del	NP_714915.3:p.Asn242IlefsTer2
NR_024522.1:n.794del
XM_006716686.2:c.420del	XP_006716749.1:p.Asn141IlefsTer2
XM_006716687.2:c.123del	XP_006716750.1:p.Asn42IlefsTer2
XM_011517363.1:c.407-5622del	XP_011515665.1:n.407-5622del
XR_428387.1:n.781del
XR_928360.1:n.781del
XR_928361.1:n.781del
XR_928362.1:n.781del
XM_006716686.4:c.420del	XP_006716749.1:p.Asn141IlefsTer2
XM_011517363.3:c.407-5622del	XP_011515665.1:n.407-5622del
XM_024447326.1:c.69del	XP_024303094.1:p.Asn24IlefsTer2
XR_001745619.2:n.764del
XR_428387.2:n.764del
XR_928360.3:n.764del
XR_928362.3:n.764del
NM_153704.6:c.723del MANE Select	NP_714915.3:p.Asn242IlefsTer2
NR_024522.2:n.744del