Canonical Allele Identifier: CA1116688838

Gene: TMEM67

Linked Data

• dbSNP Id: rs1812677762
• gnomAD v3: 8-93758428-TAGA-T
• gnomAD v4: 8-93758428-TAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758436_93758438del , CM000670.2:g.93758436_93758438del	GRCh38
NC_000008.10:g.94770664_94770666del , CM000670.1:g.94770664_94770666del	GRCh37
NC_000008.9:g.94839840_94839842del	NCBI36
NG_009190.1:g.8593_8595del , LRG_688:g.8593_8595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.313-47_313-45del	ENSP00000314488.4:n.313-47_313-45del
ENST00000409623.8:c.313-47_313-45del	ENSP00000386966.4:n.313-47_313-45del
ENST00000452276.6:c.313-47_313-45del	ENSP00000388671.2:n.313-47_313-45del
ENST00000453906.6:c.313-47_313-45del	ENSP00000403035.2:n.313-47_313-45del
ENST00000520680.2:c.313-47_313-45del	ENSP00000428785.2:n.313-47_313-45del
ENST00000521065.2:c.313-47_313-45del	ENSP00000427947.2:n.313-47_313-45del
ENST00000521517.6:c.313-47_313-45del	ENSP00000430740.2:n.313-47_313-45del
ENST00000681998.1:c.313-47_313-45del	ENSP00000506773.1:n.313-47_313-45del
ENST00000682036.1:c.313-47_313-45del	ENSP00000508390.1:n.313-47_313-45del
ENST00000682577.1:c.313-47_313-45del	ENSP00000506963.1:n.313-47_313-45del
ENST00000682624.1:c.224-47_224-45del	ENSP00000508343.1:n.224-47_224-45del
ENST00000682700.1:c.313-47_313-45del	ENSP00000507627.1:n.313-47_313-45del
ENST00000682804.1:n.206-47_206-45del
ENST00000682837.1:c.313-47_313-45del	ENSP00000507920.1:n.313-47_313-45del
ENST00000682935.1:n.313-47_313-45del
ENST00000682984.1:c.312+2570_312+2572del	ENSP00000507209.1:n.312+2570_312+2572del
ENST00000683078.1:c.313-47_313-45del	ENSP00000506796.1:n.313-47_313-45del
ENST00000683223.1:c.224-47_224-45del	ENSP00000507685.1:n.224-47_224-45del
ENST00000683238.1:n.134-47_134-45del
ENST00000683249.1:n.334-47_334-45del
ENST00000683336.1:c.313-47_313-45del	ENSP00000507695.1:n.313-47_313-45del
ENST00000683362.1:c.312+2570_312+2572del	ENSP00000506985.1:n.312+2570_312+2572del
ENST00000683850.1:n.236-47_236-45del
ENST00000683919.1:c.313-47_313-45del	ENSP00000507617.1:n.313-47_313-45del
ENST00000683953.1:c.224-47_224-45del	ENSP00000508375.1:n.224-47_224-45del
ENST00000684023.1:c.313-47_313-45del	ENSP00000507461.1:n.313-47_313-45del
ENST00000684064.1:c.4-47_4-45del	ENSP00000508192.1:n.4-47_4-45del
ENST00000684089.1:n.303-47_303-45del
ENST00000684149.1:c.313-47_313-45del	ENSP00000507943.1:n.313-47_313-45del
ENST00000684416.1:n.142-51_142-49del
ENST00000684540.1:c.313-47_313-45del	ENSP00000507987.1:n.313-47_313-45del
ENST00000684733.1:n.248-47_248-45del
ENST00000453321.8:c.313-47_313-45del MANE Select	ENSP00000389998.3:n.313-47_313-45del
ENST00000323130.7:c.283-47_283-45del	ENSP00000314488.3:n.283-47_283-45del
ENST00000409623.7:c.-61-51_-61-49del	ENSP00000386966.3:n.-61-51_-61-49del
ENST00000452276.5:c.4-47_4-45del	ENSP00000388671.1:n.4-47_4-45del
ENST00000453321.7:c.313-47_313-45del	ENSP00000389998.3:n.313-47_313-45del
ENST00000453906.5:c.313-47_313-45del	ENSP00000403035.1:n.313-47_313-45del
ENST00000455946.5:c.313-47_313-45del	ENSP00000416339.1:n.313-47_313-45del
ENST00000474944.5:n.333-47_333-45del
ENST00000475305.1:n.322-47_322-45del
ENST00000498673.5:c.-168-47_-168-45del	ENSP00000430232.1:n.-168-47_-168-45del
ENST00000518319.5:c.-203-51_-203-49del	ENSP00000430289.1:n.-203-51_-203-49del
ENST00000521065.1:c.219-47_219-45del
ENST00000521222.5:c.313-51_313-49del	ENSP00000429925.1:n.313-51_313-49del
ENST00000521517.5:c.305-47_305-45del
NM_001142301.1:c.-61-51_-61-49del , LRG_688t2:c.-61-51_-61-49del	NP_001135773.1:n.-61-51_-61-49del
NM_153704.5:c.313-47_313-45del , LRG_688t1:c.313-47_313-45del	NP_714915.3:n.313-47_313-45del
NR_024522.1:n.384-47_384-45del
XM_006716686.2:c.10-47_10-45del	XP_006716749.1:n.10-47_10-45del
XM_011517363.1:c.313-47_313-45del	XP_011515665.1:n.313-47_313-45del
XR_428387.1:n.371-47_371-45del
XR_928360.1:n.371-47_371-45del
XR_928361.1:n.371-47_371-45del
XR_928362.1:n.371-47_371-45del
XM_006716686.4:c.10-47_10-45del	XP_006716749.1:n.10-47_10-45del
XM_011517363.3:c.313-47_313-45del	XP_011515665.1:n.313-47_313-45del
XM_024447326.1:c.-97-47_-97-45del	XP_024303094.1:n.-97-47_-97-45del
XR_001745619.2:n.354-47_354-45del
XR_428387.2:n.354-47_354-45del
XR_928360.3:n.354-47_354-45del
XR_928362.3:n.354-47_354-45del
NM_153704.6:c.313-47_313-45del MANE Select	NP_714915.3:n.313-47_313-45del
NR_024522.2:n.334-47_334-45del