Canonical Allele Identifier: CA2687923100

Gene: TMEM67

Linked Data

• gnomAD v4: 8-93809003-TTTTTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93809004_93809008del , CM000670.2:g.93809004_93809008del	GRCh38
NC_000008.10:g.94821232_94821236del , CM000670.1:g.94821232_94821236del	GRCh37
NC_000008.9:g.94890408_94890412del	NCBI36
NG_009190.1:g.59161_59165del , LRG_688:g.59161_59165del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.2556+48_2557-49del	ENSP00000314488.4:n.2556+48_2557-49del
ENST00000409623.8:c.2511+48_2512-49del	ENSP00000386966.4:n.2511+48_2512-49del
ENST00000452276.6:c.2439+48_2440-49del	ENSP00000388671.2:n.2439+48_2440-49del
ENST00000453906.6:c.1674+48_1675-49del	ENSP00000403035.2:n.1674+48_1675-49del
ENST00000518896.2:c.847+48_848-49del	ENSP00000507992.1:n.847+48_848-49del
ENST00000520680.2:c.2679+48_2680-49del	ENSP00000428785.2:n.2679+48_2680-49del
ENST00000521517.6:c.2457+48_2458-49del	ENSP00000430740.2:n.2457+48_2458-49del
ENST00000681998.1:c.2377+48_2378-49del	ENSP00000506773.1:n.2377+48_2378-49del
ENST00000682036.1:c.1797+48_1798-49del	ENSP00000508390.1:n.1797+48_1798-49del
ENST00000682577.1:c.2329+48_2330-49del	ENSP00000506963.1:n.2329+48_2330-49del
ENST00000682624.1:c.*2130+48_*2131-49del	ENSP00000508343.1:n.*2130+48_*2131-49del
ENST00000682700.1:c.2556+48_2557-49del	ENSP00000507627.1:n.2556+48_2557-49del
ENST00000682744.1:n.2094+48_2095-49del
ENST00000682804.1:n.2379+48_2380-49del
ENST00000682837.1:c.2045+48_2046-49del	ENSP00000507920.1:n.2045+48_2046-49del
ENST00000682935.1:n.4606+48_4607-49del
ENST00000682984.1:c.2217+48_2218-49del	ENSP00000507209.1:n.2217+48_2218-49del
ENST00000683078.1:c.2311+48_2312-49del	ENSP00000506796.1:n.2311+48_2312-49del
ENST00000683223.1:c.2288+48_2289-49del	ENSP00000507685.1:n.2288+48_2289-49del
ENST00000683238.1:n.3780+48_3781-49del
ENST00000683249.1:n.4153+48_4154-49del
ENST00000683336.1:c.2377+48_2378-49del	ENSP00000507695.1:n.2377+48_2378-49del
ENST00000683362.1:c.2217+48_2218-49del	ENSP00000506985.1:n.2217+48_2218-49del
ENST00000683850.1:n.2479+48_2480-49del
ENST00000683919.1:c.2486+48_2487-49del	ENSP00000507617.1:n.2486+48_2487-49del
ENST00000683953.1:c.2467+48_2468-49del	ENSP00000508375.1:n.2467+48_2468-49del
ENST00000684023.1:c.2533+48_2534-49del	ENSP00000507461.1:n.2533+48_2534-49del
ENST00000684064.1:c.2247+48_2248-49del	ENSP00000508192.1:n.2247+48_2248-49del
ENST00000684089.1:n.4106+48_4107-49del
ENST00000684149.1:c.*1735+48_*1736-49del	ENSP00000507943.1:n.*1735+48_*1736-49del
ENST00000684343.1:c.753+48_754-49del	ENSP00000507591.1:n.753+48_754-49del
ENST00000684416.1:n.2515+48_2516-49del
ENST00000684540.1:c.2486+48_2487-49del	ENSP00000507987.1:n.2486+48_2487-49del
ENST00000453321.8:c.2556+48_2557-49del MANE Select	ENSP00000389998.3:n.2556+48_2557-49del
ENST00000323130.7:c.2526+48_2527-49del	ENSP00000314488.3:n.2526+48_2527-49del
ENST00000409623.7:c.2313+48_2314-49del	ENSP00000386966.3:n.2313+48_2314-49del
ENST00000453321.7:c.2556+48_2557-49del	ENSP00000389998.3:n.2556+48_2557-49del
ENST00000474944.5:n.1694+48_1695-49del
ENST00000519845.5:n.1288+48_1289-49del
NM_001142301.1:c.2313+48_2314-49del , LRG_688t2:c.2313+48_2314-49del	NP_001135773.1:n.2313+48_2314-49del
NM_153704.5:c.2556+48_2557-49del , LRG_688t1:c.2556+48_2557-49del	NP_714915.3:n.2556+48_2557-49del
NR_024522.1:n.2627+48_2628-49del
XM_006716686.2:c.2253+48_2254-49del	XP_006716749.1:n.2253+48_2254-49del
XM_006716687.2:c.1956+48_1957-49del	XP_006716750.1:n.1956+48_1957-49del
XM_011517363.1:c.1674+48_1675-49del	XP_011515665.1:n.1674+48_1675-49del
XR_428387.1:n.2614+48_2615-49del
XR_928360.1:n.2614+48_2615-49del
XR_928361.1:n.2614+48_2615-49del
XR_928362.1:n.2614+48_2615-49del
XM_006716686.4:c.2253+48_2254-49del	XP_006716749.1:n.2253+48_2254-49del
XM_011517363.3:c.1674+48_1675-49del	XP_011515665.1:n.1674+48_1675-49del
XM_024447326.1:c.1902+48_1903-49del	XP_024303094.1:n.1902+48_1903-49del
XR_001745619.2:n.2597+48_2598-49del
XR_428387.2:n.2597+48_2598-49del
XR_928360.3:n.2597+48_2598-49del
XR_928362.3:n.2597+48_2598-49del
NM_153704.6:c.2556+48_2557-49del MANE Select	NP_714915.3:n.2556+48_2557-49del
NR_024522.2:n.2577+48_2578-49del