Canonical Allele Identifier: CA4807791

Gene: TMEM67

Linked Data

• dbSNP Id: rs773716235
• ExAC: 8:94793014 AATTCAGTGCAGTT / A
• gnomAD v2: 8-94793014-AATTCAGTGCAGTT-A
• gnomAD v3: 8-93780786-AATTCAGTGCAGTT-A
• gnomAD v4: 8-93780786-AATTCAGTGCAGTT-A
• MyVariant Identifiers: chr8:g.94793015_94793027del (hg19) ; chr8:g.93780787_93780799del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780790_93780802del , CM000670.2:g.93780790_93780802del	GRCh38
NC_000008.10:g.94793018_94793030del , CM000670.1:g.94793018_94793030del	GRCh37
NC_000008.9:g.94862194_94862206del	NCBI36
NG_009190.1:g.30947_30959del , LRG_688:g.30947_30959del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.869+43_869+55del	ENSP00000314488.4:n.869+43_869+55del
ENST00000409623.8:c.869+43_869+55del	ENSP00000386966.4:n.869+43_869+55del
ENST00000452276.6:c.869+43_869+55del	ENSP00000388671.2:n.869+43_869+55del
ENST00000453906.6:c.407-5433_407-5421del	ENSP00000403035.2:n.407-5433_407-5421del
ENST00000520680.2:c.869+43_869+55del	ENSP00000428785.2:n.869+43_869+55del
ENST00000521065.2:c.*586+43_*586+55del	ENSP00000427947.2:n.*586+43_*586+55del
ENST00000521517.6:c.869+43_869+55del	ENSP00000430740.2:n.869+43_869+55del
ENST00000681998.1:c.799+43_799+55del	ENSP00000506773.1:n.799+43_799+55del
ENST00000682036.1:c.407-5433_407-5421del	ENSP00000508390.1:n.407-5433_407-5421del
ENST00000682577.1:c.799+43_799+55del	ENSP00000506963.1:n.799+43_799+55del
ENST00000682624.1:c.*443+43_*443+55del	ENSP00000508343.1:n.*443+43_*443+55del
ENST00000682700.1:c.869+43_869+55del	ENSP00000507627.1:n.869+43_869+55del
ENST00000682744.1:n.407+43_407+55del
ENST00000682804.1:n.692+43_692+55del
ENST00000682837.1:c.624+43_624+55del	ENSP00000507920.1:n.624+43_624+55del
ENST00000682935.1:n.2429+43_2429+55del
ENST00000682984.1:c.530+43_530+55del	ENSP00000507209.1:n.530+43_530+55del
ENST00000683078.1:c.624+43_624+55del	ENSP00000506796.1:n.624+43_624+55del
ENST00000683223.1:c.710+43_710+55del	ENSP00000507685.1:n.710+43_710+55del
ENST00000683238.1:n.2250+43_2250+55del
ENST00000683249.1:n.2450+43_2451-56del
ENST00000683336.1:c.799+43_799+55del	ENSP00000507695.1:n.799+43_799+55del
ENST00000683362.1:c.530+43_530+55del	ENSP00000506985.1:n.530+43_530+55del
ENST00000683850.1:n.792+43_792+55del
ENST00000683919.1:c.799+43_799+55del	ENSP00000507617.1:n.799+43_799+55del
ENST00000683953.1:c.780+43_780+55del	ENSP00000508375.1:n.780+43_780+55del
ENST00000684023.1:c.1003+43_1003+55del	ENSP00000507461.1:n.1003+43_1003+55del
ENST00000684064.1:c.560+43_560+55del	ENSP00000508192.1:n.560+43_560+55del
ENST00000684089.1:n.2419+43_2419+55del
ENST00000684149.1:c.*205+43_*205+55del	ENSP00000507943.1:n.*205+43_*205+55del
ENST00000684416.1:n.828+43_828+55del
ENST00000684540.1:c.799+43_799+55del	ENSP00000507987.1:n.799+43_799+55del
ENST00000453321.8:c.869+43_869+55del MANE Select	ENSP00000389998.3:n.869+43_869+55del
ENST00000323130.7:c.839+43_839+55del	ENSP00000314488.3:n.839+43_839+55del
ENST00000409623.7:c.626+43_626+55del	ENSP00000386966.3:n.626+43_626+55del
ENST00000425545.2:n.316+43_316+55del
ENST00000452276.5:c.560+43_560+55del	ENSP00000388671.1:n.560+43_560+55del
ENST00000453321.7:c.869+43_869+55del	ENSP00000389998.3:n.869+43_869+55del
ENST00000453906.5:c.407-5433_407-5421del	ENSP00000403035.1:n.407-5433_407-5421del
ENST00000474944.5:n.427-5433_427-5421del
ENST00000496213.5:n.334+43_334+55del
NM_001142301.1:c.626+43_626+55del , LRG_688t2:c.626+43_626+55del	NP_001135773.1:n.626+43_626+55del
NM_153704.5:c.869+43_869+55del , LRG_688t1:c.869+43_869+55del	NP_714915.3:n.869+43_869+55del
NR_024522.1:n.940+43_940+55del
XM_006716686.2:c.566+43_566+55del	XP_006716749.1:n.566+43_566+55del
XM_006716687.2:c.269+43_269+55del	XP_006716750.1:n.269+43_269+55del
XM_011517363.1:c.407-5433_407-5421del	XP_011515665.1:n.407-5433_407-5421del
XR_428387.1:n.927+43_927+55del
XR_928360.1:n.927+43_927+55del
XR_928361.1:n.927+43_927+55del
XR_928362.1:n.927+43_927+55del
XM_006716686.4:c.566+43_566+55del	XP_006716749.1:n.566+43_566+55del
XM_011517363.3:c.407-5433_407-5421del	XP_011515665.1:n.407-5433_407-5421del
XM_024447326.1:c.215+43_215+55del	XP_024303094.1:n.215+43_215+55del
XR_001745619.2:n.910+43_910+55del
XR_428387.2:n.910+43_910+55del
XR_928360.3:n.910+43_910+55del
XR_928362.3:n.910+43_910+55del
NM_153704.6:c.869+43_869+55del MANE Select	NP_714915.3:n.869+43_869+55del
NR_024522.2:n.890+43_890+55del