Canonical Allele Identifier: CA181307328

Gene: TMEM67

Linked Data

• dbSNP Id: rs138092230
• gnomAD v2: 8-94771161-A-AT
• gnomAD v3: 8-93758933-A-AT
• gnomAD v4: 8-93758933-A-AT
• MyVariant Identifiers: chr8:g.94771161_94771162insT (hg19) ; chr8:g.93758933_93758934insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93758935dup , CM000670.2:g.93758935dup	GRCh38
NC_000008.10:g.94771163dup , CM000670.1:g.94771163dup	GRCh37
NC_000008.9:g.94840339dup	NCBI36
NG_009190.1:g.9092dup , LRG_688:g.9092dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.406+359dup	ENSP00000314488.4:n.406+359dup
ENST00000409623.8:c.406+359dup	ENSP00000386966.4:n.406+359dup
ENST00000452276.6:c.406+359dup	ENSP00000388671.2:n.406+359dup
ENST00000453906.6:c.406+359dup	ENSP00000403035.2:n.406+359dup
ENST00000520680.2:c.406+359dup	ENSP00000428785.2:n.406+359dup
ENST00000521065.2:c.406+359dup	ENSP00000427947.2:n.406+359dup
ENST00000521517.6:c.406+359dup	ENSP00000430740.2:n.406+359dup
ENST00000681998.1:c.406+359dup	ENSP00000506773.1:n.406+359dup
ENST00000682036.1:c.406+359dup	ENSP00000508390.1:n.406+359dup
ENST00000682577.1:c.406+359dup	ENSP00000506963.1:n.406+359dup
ENST00000682624.1:c.*50+359dup	ENSP00000508343.1:n.*50+359dup
ENST00000682700.1:c.406+359dup	ENSP00000507627.1:n.406+359dup
ENST00000682804.1:n.299+359dup
ENST00000682837.1:c.406+359dup	ENSP00000507920.1:n.406+359dup
ENST00000682935.1:n.406+359dup
ENST00000682984.1:c.312+3069dup	ENSP00000507209.1:n.312+3069dup
ENST00000683078.1:c.406+359dup	ENSP00000506796.1:n.406+359dup
ENST00000683223.1:c.317+359dup	ENSP00000507685.1:n.317+359dup
ENST00000683238.1:n.227+359dup
ENST00000683249.1:n.427+359dup
ENST00000683336.1:c.406+359dup	ENSP00000507695.1:n.406+359dup
ENST00000683362.1:c.312+3069dup	ENSP00000506985.1:n.312+3069dup
ENST00000683850.1:n.329+359dup
ENST00000683919.1:c.406+359dup	ENSP00000507617.1:n.406+359dup
ENST00000683953.1:c.317+359dup	ENSP00000508375.1:n.317+359dup
ENST00000684023.1:c.406+359dup	ENSP00000507461.1:n.406+359dup
ENST00000684064.1:c.97+359dup	ENSP00000508192.1:n.97+359dup
ENST00000684089.1:n.396+359dup
ENST00000684149.1:c.406+359dup	ENSP00000507943.1:n.406+359dup
ENST00000684416.1:n.231+359dup
ENST00000684540.1:c.406+359dup	ENSP00000507987.1:n.406+359dup
ENST00000684733.1:n.700dup
ENST00000453321.8:c.406+359dup MANE Select	ENSP00000389998.3:n.406+359dup
ENST00000323130.7:c.376+359dup	ENSP00000314488.3:n.376+359dup
ENST00000409623.7:c.29+359dup	ENSP00000386966.3:n.29+359dup
ENST00000452276.5:c.97+359dup	ENSP00000388671.1:n.97+359dup
ENST00000453321.7:c.406+359dup	ENSP00000389998.3:n.406+359dup
ENST00000453906.5:c.406+359dup	ENSP00000403035.1:n.406+359dup
ENST00000455946.5:c.406+359dup	ENSP00000416339.1:n.406+359dup
ENST00000474944.5:n.426+359dup
ENST00000475305.1:n.774dup
ENST00000498673.5:c.-75+359dup	ENSP00000430232.1:n.-75+359dup
ENST00000518319.5:c.-114+359dup	ENSP00000430289.1:n.-114+359dup
ENST00000521065.1:c.312+359dup
ENST00000521222.5:c.*42+359dup	ENSP00000429925.1:n.*42+359dup
ENST00000521517.5:c.398+359dup
NM_001142301.1:c.29+359dup , LRG_688t2:c.29+359dup	NP_001135773.1:n.29+359dup
NM_153704.5:c.406+359dup , LRG_688t1:c.406+359dup	NP_714915.3:n.406+359dup
NR_024522.1:n.477+359dup
XM_006716686.2:c.103+359dup	XP_006716749.1:n.103+359dup
XM_011517363.1:c.406+359dup	XP_011515665.1:n.406+359dup
XR_428387.1:n.464+359dup
XR_928360.1:n.464+359dup
XR_928361.1:n.464+359dup
XR_928362.1:n.464+359dup
XM_006716686.4:c.103+359dup	XP_006716749.1:n.103+359dup
XM_011517363.3:c.406+359dup	XP_011515665.1:n.406+359dup
XM_024447326.1:c.-4+359dup	XP_024303094.1:n.-4+359dup
XR_001745619.2:n.447+359dup
XR_428387.2:n.447+359dup
XR_928360.3:n.447+359dup
XR_928362.3:n.447+359dup
NM_153704.6:c.406+359dup MANE Select	NP_714915.3:n.406+359dup
NR_024522.2:n.427+359dup