Canonical Allele Identifier: CA583407051

Gene: TMEM67

Linked Data

• dbSNP Id: rs1451864939
• gnomAD v2: 8-94770630-CTT-C
• gnomAD v3: 8-93758402-CTT-C
• gnomAD v4: 8-93758402-CTT-C
• MyVariant Identifiers: chr8:g.94770631_94770632del (hg19) ; chr8:g.93758403_93758404del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758403_93758404del , CM000670.2:g.93758403_93758404del	GRCh38
NC_000008.10:g.94770631_94770632del , CM000670.1:g.94770631_94770632del	GRCh37
NC_000008.9:g.94839807_94839808del	NCBI36
NG_009190.1:g.8560_8561del , LRG_688:g.8560_8561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.313-80_313-79del	ENSP00000314488.4:n.313-80_313-79del
ENST00000409623.8:c.313-80_313-79del	ENSP00000386966.4:n.313-80_313-79del
ENST00000452276.6:c.313-80_313-79del	ENSP00000388671.2:n.313-80_313-79del
ENST00000453906.6:c.313-80_313-79del	ENSP00000403035.2:n.313-80_313-79del
ENST00000520680.2:c.313-80_313-79del	ENSP00000428785.2:n.313-80_313-79del
ENST00000521065.2:c.313-80_313-79del	ENSP00000427947.2:n.313-80_313-79del
ENST00000521517.6:c.313-80_313-79del	ENSP00000430740.2:n.313-80_313-79del
ENST00000681998.1:c.313-80_313-79del	ENSP00000506773.1:n.313-80_313-79del
ENST00000682036.1:c.313-80_313-79del	ENSP00000508390.1:n.313-80_313-79del
ENST00000682577.1:c.313-80_313-79del	ENSP00000506963.1:n.313-80_313-79del
ENST00000682624.1:c.224-80_224-79del	ENSP00000508343.1:n.224-80_224-79del
ENST00000682700.1:c.313-80_313-79del	ENSP00000507627.1:n.313-80_313-79del
ENST00000682804.1:n.206-80_206-79del
ENST00000682837.1:c.313-80_313-79del	ENSP00000507920.1:n.313-80_313-79del
ENST00000682935.1:n.313-80_313-79del
ENST00000682984.1:c.312+2537_312+2538del	ENSP00000507209.1:n.312+2537_312+2538del
ENST00000683078.1:c.313-80_313-79del	ENSP00000506796.1:n.313-80_313-79del
ENST00000683223.1:c.224-80_224-79del	ENSP00000507685.1:n.224-80_224-79del
ENST00000683238.1:n.134-80_134-79del
ENST00000683249.1:n.334-80_334-79del
ENST00000683336.1:c.313-80_313-79del	ENSP00000507695.1:n.313-80_313-79del
ENST00000683362.1:c.312+2537_312+2538del	ENSP00000506985.1:n.312+2537_312+2538del
ENST00000683850.1:n.236-80_236-79del
ENST00000683919.1:c.313-80_313-79del	ENSP00000507617.1:n.313-80_313-79del
ENST00000683953.1:c.224-80_224-79del	ENSP00000508375.1:n.224-80_224-79del
ENST00000684023.1:c.313-80_313-79del	ENSP00000507461.1:n.313-80_313-79del
ENST00000684064.1:c.4-80_4-79del	ENSP00000508192.1:n.4-80_4-79del
ENST00000684089.1:n.303-80_303-79del
ENST00000684149.1:c.313-80_313-79del	ENSP00000507943.1:n.313-80_313-79del
ENST00000684416.1:n.142-84_142-83del
ENST00000684540.1:c.313-80_313-79del	ENSP00000507987.1:n.313-80_313-79del
ENST00000684733.1:n.248-80_248-79del
ENST00000453321.8:c.313-80_313-79del MANE Select	ENSP00000389998.3:n.313-80_313-79del
ENST00000323130.7:c.283-80_283-79del	ENSP00000314488.3:n.283-80_283-79del
ENST00000409623.7:c.-61-84_-61-83del	ENSP00000386966.3:n.-61-84_-61-83del
ENST00000452276.5:c.4-80_4-79del	ENSP00000388671.1:n.4-80_4-79del
ENST00000453321.7:c.313-80_313-79del	ENSP00000389998.3:n.313-80_313-79del
ENST00000453906.5:c.313-80_313-79del	ENSP00000403035.1:n.313-80_313-79del
ENST00000455946.5:c.313-80_313-79del	ENSP00000416339.1:n.313-80_313-79del
ENST00000474944.5:n.333-80_333-79del
ENST00000475305.1:n.322-80_322-79del
ENST00000498673.5:c.-168-80_-168-79del	ENSP00000430232.1:n.-168-80_-168-79del
ENST00000518319.5:c.-203-84_-203-83del	ENSP00000430289.1:n.-203-84_-203-83del
ENST00000521065.1:c.219-80_219-79del
ENST00000521222.5:c.313-84_313-83del	ENSP00000429925.1:n.313-84_313-83del
ENST00000521517.5:c.305-80_305-79del
NM_001142301.1:c.-61-84_-61-83del , LRG_688t2:c.-61-84_-61-83del	NP_001135773.1:n.-61-84_-61-83del
NM_153704.5:c.313-80_313-79del , LRG_688t1:c.313-80_313-79del	NP_714915.3:n.313-80_313-79del
NR_024522.1:n.384-80_384-79del
XM_006716686.2:c.10-80_10-79del	XP_006716749.1:n.10-80_10-79del
XM_011517363.1:c.313-80_313-79del	XP_011515665.1:n.313-80_313-79del
XR_428387.1:n.371-80_371-79del
XR_928360.1:n.371-80_371-79del
XR_928361.1:n.371-80_371-79del
XR_928362.1:n.371-80_371-79del
XM_006716686.4:c.10-80_10-79del	XP_006716749.1:n.10-80_10-79del
XM_011517363.3:c.313-80_313-79del	XP_011515665.1:n.313-80_313-79del
XM_024447326.1:c.-97-80_-97-79del	XP_024303094.1:n.-97-80_-97-79del
XR_001745619.2:n.354-80_354-79del
XR_428387.2:n.354-80_354-79del
XR_928360.3:n.354-80_354-79del
XR_928362.3:n.354-80_354-79del
NM_153704.6:c.313-80_313-79del MANE Select	NP_714915.3:n.313-80_313-79del
NR_024522.2:n.334-80_334-79del