Canonical Allele Identifier: CA2687917815

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93758451-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758455_93758456del , CM000670.2:g.93758455_93758456del	GRCh38
NC_000008.10:g.94770683_94770684del , CM000670.1:g.94770683_94770684del	GRCh37
NC_000008.9:g.94839859_94839860del	NCBI36
NG_009190.1:g.8612_8613del , LRG_688:g.8612_8613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.313-28_313-27del	ENSP00000314488.4:n.313-28_313-27del
ENST00000409623.8:c.313-28_313-27del	ENSP00000386966.4:n.313-28_313-27del
ENST00000452276.6:c.313-28_313-27del	ENSP00000388671.2:n.313-28_313-27del
ENST00000453906.6:c.313-28_313-27del	ENSP00000403035.2:n.313-28_313-27del
ENST00000520680.2:c.313-28_313-27del	ENSP00000428785.2:n.313-28_313-27del
ENST00000521065.2:c.313-28_313-27del	ENSP00000427947.2:n.313-28_313-27del
ENST00000521517.6:c.313-28_313-27del	ENSP00000430740.2:n.313-28_313-27del
ENST00000681998.1:c.313-28_313-27del	ENSP00000506773.1:n.313-28_313-27del
ENST00000682036.1:c.313-28_313-27del	ENSP00000508390.1:n.313-28_313-27del
ENST00000682577.1:c.313-28_313-27del	ENSP00000506963.1:n.313-28_313-27del
ENST00000682624.1:c.224-28_224-27del	ENSP00000508343.1:n.224-28_224-27del
ENST00000682700.1:c.313-28_313-27del	ENSP00000507627.1:n.313-28_313-27del
ENST00000682804.1:n.206-28_206-27del
ENST00000682837.1:c.313-28_313-27del	ENSP00000507920.1:n.313-28_313-27del
ENST00000682935.1:n.313-28_313-27del
ENST00000682984.1:c.312+2589_312+2590del	ENSP00000507209.1:n.312+2589_312+2590del
ENST00000683078.1:c.313-28_313-27del	ENSP00000506796.1:n.313-28_313-27del
ENST00000683223.1:c.224-28_224-27del	ENSP00000507685.1:n.224-28_224-27del
ENST00000683238.1:n.134-28_134-27del
ENST00000683249.1:n.334-28_334-27del
ENST00000683336.1:c.313-28_313-27del	ENSP00000507695.1:n.313-28_313-27del
ENST00000683362.1:c.312+2589_312+2590del	ENSP00000506985.1:n.312+2589_312+2590del
ENST00000683850.1:n.236-28_236-27del
ENST00000683919.1:c.313-28_313-27del	ENSP00000507617.1:n.313-28_313-27del
ENST00000683953.1:c.224-28_224-27del	ENSP00000508375.1:n.224-28_224-27del
ENST00000684023.1:c.313-28_313-27del	ENSP00000507461.1:n.313-28_313-27del
ENST00000684064.1:c.4-28_4-27del	ENSP00000508192.1:n.4-28_4-27del
ENST00000684089.1:n.303-28_303-27del
ENST00000684149.1:c.313-28_313-27del	ENSP00000507943.1:n.313-28_313-27del
ENST00000684416.1:n.142-32_142-31del
ENST00000684540.1:c.313-28_313-27del	ENSP00000507987.1:n.313-28_313-27del
ENST00000684733.1:n.248-28_248-27del
ENST00000453321.8:c.313-28_313-27del MANE Select	ENSP00000389998.3:n.313-28_313-27del
ENST00000323130.7:c.283-28_283-27del	ENSP00000314488.3:n.283-28_283-27del
ENST00000409623.7:c.-61-32_-61-31del	ENSP00000386966.3:n.-61-32_-61-31del
ENST00000452276.5:c.4-28_4-27del	ENSP00000388671.1:n.4-28_4-27del
ENST00000453321.7:c.313-28_313-27del	ENSP00000389998.3:n.313-28_313-27del
ENST00000453906.5:c.313-28_313-27del	ENSP00000403035.1:n.313-28_313-27del
ENST00000455946.5:c.313-28_313-27del	ENSP00000416339.1:n.313-28_313-27del
ENST00000474944.5:n.333-28_333-27del
ENST00000475305.1:n.322-28_322-27del
ENST00000498673.5:c.-168-28_-168-27del	ENSP00000430232.1:n.-168-28_-168-27del
ENST00000518319.5:c.-203-32_-203-31del	ENSP00000430289.1:n.-203-32_-203-31del
ENST00000521065.1:c.219-28_219-27del
ENST00000521222.5:c.313-32_313-31del	ENSP00000429925.1:n.313-32_313-31del
ENST00000521517.5:c.305-28_305-27del
NM_001142301.1:c.-61-32_-61-31del , LRG_688t2:c.-61-32_-61-31del	NP_001135773.1:n.-61-32_-61-31del
NM_153704.5:c.313-28_313-27del , LRG_688t1:c.313-28_313-27del	NP_714915.3:n.313-28_313-27del
NR_024522.1:n.384-28_384-27del
XM_006716686.2:c.10-28_10-27del	XP_006716749.1:n.10-28_10-27del
XM_011517363.1:c.313-28_313-27del	XP_011515665.1:n.313-28_313-27del
XR_428387.1:n.371-28_371-27del
XR_928360.1:n.371-28_371-27del
XR_928361.1:n.371-28_371-27del
XR_928362.1:n.371-28_371-27del
XM_006716686.4:c.10-28_10-27del	XP_006716749.1:n.10-28_10-27del
XM_011517363.3:c.313-28_313-27del	XP_011515665.1:n.313-28_313-27del
XM_024447326.1:c.-97-28_-97-27del	XP_024303094.1:n.-97-28_-97-27del
XR_001745619.2:n.354-28_354-27del
XR_428387.2:n.354-28_354-27del
XR_928360.3:n.354-28_354-27del
XR_928362.3:n.354-28_354-27del
NM_153704.6:c.313-28_313-27del MANE Select	NP_714915.3:n.313-28_313-27del
NR_024522.2:n.334-28_334-27del