Canonical Allele Identifier: CA2241763290

Gene: SPG7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89554494_89554511delinsACTGCTGGTGGCCAAGGC , CM000678.2:g.89554494_89554511delinsACTGCTGGTGGCCAAGGC	GRCh38
NC_000016.9:g.89620902_89620919delinsACTGCTGGTGGCCAAGGC , CM000678.1:g.89620902_89620919delinsACTGCTGGTGGCCAAGGC	GRCh37
NC_000016.8:g.88148403_88148420delinsACTGCTGGTGGCCAAGGC	NCBI36
NG_008082.1:g.51098_51115delinsACTGCTGGTGGCCAAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268704.7:c.2091_2108delinsACTGCTGGTGGCCAAGGC	ENSP00000268704.3:p.Arg697=
ENST00000561702.6:n.2784_2801delinsACTGCTGGTGGCCAAGGC
ENST00000565891.2:c.9_26delinsACTGCTGGTGGCCAAGGC	ENSP00000495004.1:p.Arg3=
ENST00000566682.2:c.1153_1170delinsACTGCTGGTGGCCAAGGC	ENSP00000461979.2:n.1153_1170delinsACTGCTGGTGGCCAAGGC
ENST00000569720.2:n.795_812delinsACTGCTGGTGGCCAAGGC
ENST00000569820.6:c.2385_2402delinsACTGCTGGTGGCCAAGGC
ENST00000642226.1:n.2175_2192delinsACTGCTGGTGGCCAAGGC
ENST00000642334.1:c.3530_3547delinsACTGCTGGTGGCCAAGGC
ENST00000642814.1:n.1527_1544delinsACTGCTGGTGGCCAAGGC
ENST00000642984.1:n.1835_1852delinsACTGCTGGTGGCCAAGGC
ENST00000643105.1:c.2818_2835delinsACTGCTGGTGGCCAAGGC
ENST00000643350.1:n.1526_1543delinsACTGCTGGTGGCCAAGGC
ENST00000643409.1:n.2537_2554delinsACTGCTGGTGGCCAAGGC
ENST00000643496.1:n.1929_1946delinsACTGCTGGTGGCCAAGGC
ENST00000643649.1:c.2001_2018delinsACTGCTGGTGGCCAAGGC	ENSP00000494806.1:p.Arg667=
ENST00000643668.1:c.*2406_*2423delinsACTGCTGGTGGCCAAGGC	ENSP00000494903.1:n.*2406_*2423delinsACTGCTGGTGGCCAAGGC
ENST00000643724.1:c.*1160_*1177delinsACTGCTGGTGGCCAAGGC	ENSP00000496335.1:n.*1160_*1177delinsACTGCTGGTGGCCAAGGC
ENST00000643954.1:c.3011_3028delinsACTGCTGGTGGCCAAGGC
ENST00000644171.1:n.2872_2889delinsACTGCTGGTGGCCAAGGC
ENST00000644210.1:c.*684_*701delinsACTGCTGGTGGCCAAGGC	ENSP00000495675.1:n.*684_*701delinsACTGCTGGTGGCCAAGGC
ENST00000644225.1:n.2129_2146delinsACTGCTGGTGGCCAAGGC
ENST00000644281.1:n.2796_2813delinsACTGCTGGTGGCCAAGGC
ENST00000644464.1:n.765_782delinsACTGCTGGTGGCCAAGGC
ENST00000644498.1:c.*1931_*1948delinsACTGCTGGTGGCCAAGGC	ENSP00000496244.1:n.*1931_*1948delinsACTGCTGGTGGCCAAGGC
ENST00000644671.1:c.1769_1786delinsACTGCTGGTGGCCAAGGC
ENST00000644751.1:c.1300_1317delinsACTGCTGGTGGCCAAGGC
ENST00000644781.1:c.2067_2084delinsACTGCTGGTGGCCAAGGC	ENSP00000495473.1:p.Arg689=
ENST00000644901.1:c.*2506_*2523delinsACTGCTGGTGGCCAAGGC	ENSP00000493797.1:n.*2506_*2523delinsACTGCTGGTGGCCAAGGC
ENST00000645042.1:c.*886_*903delinsACTGCTGGTGGCCAAGGC	ENSP00000493908.1:n.*886_*903delinsACTGCTGGTGGCCAAGGC
ENST00000645063.1:c.2112_2129delinsACTGCTGGTGGCCAAGGC	ENSP00000493590.1:p.Arg704=
ENST00000645354.1:c.2872_2889delinsACTGCTGGTGGCCAAGGC
ENST00000645392.1:n.2453_2470delinsACTGCTGGTGGCCAAGGC
ENST00000645742.1:n.746_763delinsACTGCTGGTGGCCAAGGC
ENST00000645818.2:c.2112_2129delinsACTGCTGGTGGCCAAGGC MANE Select	ENSP00000495795.2:p.Arg704=
ENST00000645842.1:n.1957_1974delinsACTGCTGGTGGCCAAGGC
ENST00000645886.1:c.1617_1634delinsACTGCTGGTGGCCAAGGC
ENST00000645897.1:c.1650_1667delinsACTGCTGGTGGCCAAGGC	ENSP00000495293.1:p.Arg550=
ENST00000645952.1:n.1977_1994delinsACTGCTGGTGGCCAAGGC
ENST00000645977.1:n.3230_3247delinsACTGCTGGTGGCCAAGGC
ENST00000646005.1:n.1870_1887delinsACTGCTGGTGGCCAAGGC
ENST00000646263.1:c.*985_*1002delinsACTGCTGGTGGCCAAGGC	ENSP00000494119.1:n.*985_*1002delinsACTGCTGGTGGCCAAGGC
ENST00000646303.1:c.1980_1997delinsACTGCTGGTGGCCAAGGC	ENSP00000494160.1:p.Arg660=
ENST00000646399.1:c.3006_3023delinsACTGCTGGTGGCCAAGGC
ENST00000646445.1:c.970_987delinsACTGCTGGTGGCCAAGGC
ENST00000646531.1:c.*735_*752delinsACTGCTGGTGGCCAAGGC	ENSP00000495185.1:n.*735_*752delinsACTGCTGGTGGCCAAGGC
ENST00000646589.1:c.*1240_*1257delinsACTGCTGGTGGCCAAGGC	ENSP00000494739.1:n.*1240_*1257delinsACTGCTGGTGGCCAAGGC
ENST00000646716.1:c.1164_1181delinsACTGCTGGTGGCCAAGGC	ENSP00000495593.1:p.Arg388=
ENST00000646826.1:c.*785_*802delinsACTGCTGGTGGCCAAGGC	ENSP00000495123.1:n.*785_*802delinsACTGCTGGTGGCCAAGGC
ENST00000646930.1:c.*2041_*2058delinsACTGCTGGTGGCCAAGGC	ENSP00000495219.1:n.*2041_*2058delinsACTGCTGGTGGCCAAGGC
ENST00000647032.1:c.1743_1760delinsACTGCTGGTGGCCAAGGC
ENST00000647079.1:c.1704_1721delinsACTGCTGGTGGCCAAGGC	ENSP00000495967.1:p.Arg568=
ENST00000647123.1:n.2069_2086delinsACTGCTGGTGGCCAAGGC
ENST00000647227.1:c.1750_1767delinsACTGCTGGTGGCCAAGGC
ENST00000647302.1:n.2762_2779delinsACTGCTGGTGGCCAAGGC
ENST00000647476.1:n.999_1016delinsACTGCTGGTGGCCAAGGC
ENST00000647491.1:n.1856_1873delinsACTGCTGGTGGCCAAGGC
ENST00000268704.6:c.2112_2129delinsACTGCTGGTGGCCAAGGC	ENSP00000268704.2:p.Arg704=
ENST00000561702.5:n.1097_1114delinsACTGCTGGTGGCCAAGGC
ENST00000561911.5:c.712_729delinsACTGCTGGTGGCCAAGGC	ENSP00000457387.1:n.712_729delinsACTGCTGGTGGCCAAGGC
ENST00000566682.1:c.248_265delinsACTGCTGGTGGCCAAGGC
ENST00000569720.1:n.303_320delinsACTGCTGGTGGCCAAGGC
ENST00000569820.5:c.1354_1371delinsACTGCTGGTGGCCAAGGC
ENST00000620811.4:c.*158_*175delinsACTGCTGGTGGCCAAGGC	ENSP00000478030.1:n.*158_*175delinsACTGCTGGTGGCCAAGGC
NM_003119.3:c.2112_2129delinsACTGCTGGTGGCCAAGGC	NP_003110.1:p.Arg704=
XM_006721264.2:c.2112_2129delinsACTGCTGGTGGCCAAGGC	XP_006721327.1:p.Arg704=
NM_001363850.1:c.2112_2129delinsACTGCTGGTGGCCAAGGC	NP_001350779.1:p.Arg704=
XM_006721264.4:c.2112_2129delinsACTGCTGGTGGCCAAGGC	XP_006721327.1:p.Arg704=
XR_001751971.2:n.2461_2478delinsACTGCTGGTGGCCAAGGC
XR_001751972.2:n.3748_3765delinsACTGCTGGTGGCCAAGGC
NM_003119.4:c.2112_2129delinsACTGCTGGTGGCCAAGGC MANE Select	NP_003110.1:p.Arg704=