Canonical Allele Identifier: CA2781326130

Gene: TMEM67

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93809015_93809016insGTC , CM000670.2:g.93809015_93809016insGTC	GRCh38
NC_000008.10:g.94821243_94821244insGTC , CM000670.1:g.94821243_94821244insGTC	GRCh37
NC_000008.9:g.94890419_94890420insGTC	NCBI36
NG_009190.1:g.59172_59173insGTC , LRG_688:g.59172_59173insGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2557-42_2557-41insGTC	ENSP00000314488.4:n.2557-42_2557-41insGTC
ENST00000409623.8:c.2512-42_2512-41insGTC	ENSP00000386966.4:n.2512-42_2512-41insGTC
ENST00000452276.6:c.2440-42_2440-41insGTC	ENSP00000388671.2:n.2440-42_2440-41insGTC
ENST00000453906.6:c.1675-42_1675-41insGTC	ENSP00000403035.2:n.1675-42_1675-41insGTC
ENST00000518896.2:c.848-42_848-41insGTC	ENSP00000507992.1:n.848-42_848-41insGTC
ENST00000520680.2:c.2680-42_2680-41insGTC	ENSP00000428785.2:n.2680-42_2680-41insGTC
ENST00000521517.6:c.2458-42_2458-41insGTC	ENSP00000430740.2:n.2458-42_2458-41insGTC
ENST00000681998.1:c.2378-42_2378-41insGTC	ENSP00000506773.1:n.2378-42_2378-41insGTC
ENST00000682036.1:c.1798-42_1798-41insGTC	ENSP00000508390.1:n.1798-42_1798-41insGTC
ENST00000682577.1:c.2330-42_2330-41insGTC	ENSP00000506963.1:n.2330-42_2330-41insGTC
ENST00000682624.1:c.*2131-42_*2131-41insGTC	ENSP00000508343.1:n.*2131-42_*2131-41insGTC
ENST00000682700.1:c.2557-42_2557-41insGTC	ENSP00000507627.1:n.2557-42_2557-41insGTC
ENST00000682744.1:n.2095-42_2095-41insGTC
ENST00000682804.1:n.2380-42_2380-41insGTC
ENST00000682837.1:c.2046-42_2046-41insGTC	ENSP00000507920.1:n.2046-42_2046-41insGTC
ENST00000682935.1:n.4607-42_4607-41insGTC
ENST00000682984.1:c.2218-42_2218-41insGTC	ENSP00000507209.1:n.2218-42_2218-41insGTC
ENST00000683078.1:c.2312-42_2312-41insGTC	ENSP00000506796.1:n.2312-42_2312-41insGTC
ENST00000683223.1:c.2289-42_2289-41insGTC	ENSP00000507685.1:n.2289-42_2289-41insGTC
ENST00000683238.1:n.3781-42_3781-41insGTC
ENST00000683249.1:n.4154-42_4154-41insGTC
ENST00000683336.1:c.2378-42_2378-41insGTC	ENSP00000507695.1:n.2378-42_2378-41insGTC
ENST00000683362.1:c.2218-42_2218-41insGTC	ENSP00000506985.1:n.2218-42_2218-41insGTC
ENST00000683850.1:n.2480-42_2480-41insGTC
ENST00000683919.1:c.2487-42_2487-41insGTC	ENSP00000507617.1:n.2487-42_2487-41insGTC
ENST00000683953.1:c.2468-42_2468-41insGTC	ENSP00000508375.1:n.2468-42_2468-41insGTC
ENST00000684023.1:c.2534-42_2534-41insGTC	ENSP00000507461.1:n.2534-42_2534-41insGTC
ENST00000684064.1:c.2248-42_2248-41insGTC	ENSP00000508192.1:n.2248-42_2248-41insGTC
ENST00000684089.1:n.4107-42_4107-41insGTC
ENST00000684149.1:c.*1736-42_*1736-41insGTC	ENSP00000507943.1:n.*1736-42_*1736-41insGTC
ENST00000684343.1:c.754-42_754-41insGTC	ENSP00000507591.1:n.754-42_754-41insGTC
ENST00000684416.1:n.2516-42_2516-41insGTC
ENST00000684540.1:c.2487-42_2487-41insGTC	ENSP00000507987.1:n.2487-42_2487-41insGTC
ENST00000453321.8:c.2557-42_2557-41insGTC MANE Select	ENSP00000389998.3:n.2557-42_2557-41insGTC
ENST00000323130.7:c.2527-42_2527-41insGTC	ENSP00000314488.3:n.2527-42_2527-41insGTC
ENST00000409623.7:c.2314-42_2314-41insGTC	ENSP00000386966.3:n.2314-42_2314-41insGTC
ENST00000453321.7:c.2557-42_2557-41insGTC	ENSP00000389998.3:n.2557-42_2557-41insGTC
ENST00000474944.5:n.1695-42_1695-41insGTC
ENST00000519845.5:n.1289-42_1289-41insGTC
NM_001142301.1:c.2314-42_2314-41insGTC , LRG_688t2:c.2314-42_2314-41insGTC	NP_001135773.1:n.2314-42_2314-41insGTC
NM_153704.5:c.2557-42_2557-41insGTC , LRG_688t1:c.2557-42_2557-41insGTC	NP_714915.3:n.2557-42_2557-41insGTC
NR_024522.1:n.2628-42_2628-41insGTC
XM_006716686.2:c.2254-42_2254-41insGTC	XP_006716749.1:n.2254-42_2254-41insGTC
XM_006716687.2:c.1957-42_1957-41insGTC	XP_006716750.1:n.1957-42_1957-41insGTC
XM_011517363.1:c.1675-42_1675-41insGTC	XP_011515665.1:n.1675-42_1675-41insGTC
XR_428387.1:n.2615-42_2615-41insGTC
XR_928360.1:n.2615-42_2615-41insGTC
XR_928361.1:n.2615-42_2615-41insGTC
XR_928362.1:n.2615-42_2615-41insGTC
XM_006716686.4:c.2254-42_2254-41insGTC	XP_006716749.1:n.2254-42_2254-41insGTC
XM_011517363.3:c.1675-42_1675-41insGTC	XP_011515665.1:n.1675-42_1675-41insGTC
XM_024447326.1:c.1903-42_1903-41insGTC	XP_024303094.1:n.1903-42_1903-41insGTC
XR_001745619.2:n.2598-42_2598-41insGTC
XR_428387.2:n.2598-42_2598-41insGTC
XR_928360.3:n.2598-42_2598-41insGTC
XR_928362.3:n.2598-42_2598-41insGTC
NM_153704.6:c.2557-42_2557-41insGTC MANE Select	NP_714915.3:n.2557-42_2557-41insGTC
NR_024522.2:n.2578-42_2578-41insGTC