Canonical Allele Identifier: CA16615429
Gene: SPG7 HGNC NCBI

Linked Data

ClinVar Variation Id: 411676
ClinVar RCV Id: RCV000465046
dbSNP Id: rs1060503425

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89531961_89531962delinsAGC , CM000678.2:g.89531961_89531962delinsAGC GRCh38
NC_000016.9:g.89598369_89598370delinsAGC , CM000678.1:g.89598369_89598370delinsAGC GRCh37
NC_000016.8:g.88125870_88125871delinsAGC NCBI36
NG_008082.1:g.28565_28566delinsAGC

Transcript Alleles

HGVS Amino-acid change
ENST00000268704.7:c.1024_1025delinsAGC ENSP00000268704.3:p.Gly342SerfsTer?
ENST00000561945.2:n.190_191delinsAGC
ENST00000564409.2:c.1101_1102delinsAGC ENSP00000495297.1:n.1101_1102delinsAGC
ENST00000566682.2:c.58_59delinsAGC ENSP00000461979.2:p.Gly20SerfsTer?
ENST00000642334.1:c.918_919delinsAGC
ENST00000642371.1:c.1124_1125delinsAGC
ENST00000642427.1:n.445_446delinsAGC
ENST00000642436.1:n.389-8983_389-8982delinsAGC
ENST00000643105.1:c.965_966delinsAGC
ENST00000643178.1:n.590_591delinsAGC
ENST00000643307.1:c.1045_1046delinsAGC ENSP00000495673.1:p.Gly349SerfsTer?
ENST00000643345.1:c.*569_*570delinsAGC ENSP00000493982.1:n.*569_*570delinsAGC
ENST00000643370.1:c.325-502_325-501delinsAGC ENSP00000494895.1:n.325-502_325-501delins...
ENST00000643496.1:n.862_863delinsAGC
ENST00000643649.1:c.1045_1046delinsAGC ENSP00000494806.1:p.Gly349SerfsTer?
ENST00000643668.1:c.*1339_*1340delinsAGC ENSP00000494903.1:n.*1339_*1340delinsAGC
ENST00000643724.1:c.*497+1153_*497+1154delinsAGC ENSP00000496335.1:n.*497+1153_*497+1154de...
ENST00000643954.1:c.783_784delinsAGC
ENST00000644171.1:n.1019_1020delinsAGC
ENST00000644210.1:c.1045_1046delinsAGC ENSP00000495675.1:p.Gly349SerfsTer?
ENST00000644225.1:n.1062_1063delinsAGC
ENST00000644498.1:c.1024_1025delinsAGC ENSP00000496244.1:p.Gly342SerfsTer?
ENST00000644671.1:c.702_703delinsAGC
ENST00000644748.1:n.2476_2477delinsAGC
ENST00000644751.1:c.447_448delinsAGC
ENST00000644781.1:c.1045_1046delinsAGC ENSP00000495473.1:p.Gly349SerfsTer?
ENST00000644901.1:c.*998_*999delinsAGC ENSP00000493797.1:n.*998_*999delinsAGC
ENST00000645042.1:c.1045_1046delinsAGC ENSP00000493908.1:p.Gly349SerfsTer?
ENST00000645063.1:c.1045_1046delinsAGC ENSP00000493590.1:p.Gly349SerfsTer?
ENST00000645354.1:c.1805_1806delinsAGC
ENST00000645533.1:c.*174_*175delinsAGC ENSP00000495690.1:n.*174_*175delinsAGC
ENST00000645818.2:c.1045_1046delinsAGC MANE Select ENSP00000495795.2:p.Gly349SerfsTer?
ENST00000645886.1:c.272_273delinsAGC
ENST00000645897.1:c.987+1153_987+1154delinsAGC ENSP00000495293.1:n.987+1153_987+1154deli...
ENST00000645977.1:n.2163_2164delinsAGC
ENST00000646263.1:c.1045_1046delinsAGC ENSP00000494119.1:p.Gly349SerfsTer?
ENST00000646303.1:c.913_914delinsAGC ENSP00000494160.1:p.Gly305SerfsTer?
ENST00000646399.1:c.728_729delinsAGC
ENST00000646445.1:c.183-12687_183-12686delinsAGC
ENST00000646454.1:n.710+1004_710+1005delinsAGC
ENST00000646531.1:c.1045_1046delinsAGC ENSP00000495185.1:p.Gly349SerfsTer?
ENST00000646589.1:c.*173_*174delinsAGC ENSP00000494739.1:n.*173_*174delinsAGC
ENST00000646716.1:c.377-12687_377-12686delinsAGC ENSP00000495593.1:n.377-12687_377-12686de...
ENST00000646826.1:c.1045_1046delinsAGC ENSP00000495123.1:p.Gly349SerfsTer?
ENST00000646930.1:c.1045_1046delinsAGC ENSP00000495219.1:p.Gly349SerfsTer?
ENST00000646958.1:n.2090_2091delinsAGC
ENST00000647032.1:c.660_661delinsAGC
ENST00000647079.1:c.637_638delinsAGC ENSP00000495967.1:p.Gly213SerfsTer?
ENST00000647227.1:c.808_809delinsAGC
ENST00000268704.6:c.1045_1046delinsAGC ENSP00000268704.2:p.Gly349SerfsTer?
ENST00000341316.6:c.1045_1046delinsAGC ENSP00000341157.2:p.Gly349SerfsTer?
ENST00000561945.1:n.89_90delinsAGC
ENST00000564409.1:n.504_505delinsAGC
ENST00000620811.4:c.-532_-531delinsAGC ENSP00000478030.1:n.-532_-531delinsAGC
NM_003119.3:c.1045_1046delinsAGC NP_003110.1:p.Gly349SerfsTer?
NM_199367.2:c.1045_1046delinsAGC NP_955399.1:p.Gly349SerfsTer?
XM_005256321.3:c.1045_1046delinsAGC XP_005256378.1:p.Gly349SerfsTer?
XM_006721264.2:c.1045_1046delinsAGC XP_006721327.1:p.Gly349SerfsTer?
XM_011523306.1:c.1045_1046delinsAGC XP_011521608.1:p.Gly349SerfsTer?
XM_011523307.1:c.1045_1046delinsAGC XP_011521609.1:p.Gly349SerfsTer?
NM_001363850.1:c.1045_1046delinsAGC NP_001350779.1:p.Gly349SerfsTer?
XM_005256321.4:c.1045_1046delinsAGC XP_005256378.1:p.Gly349SerfsTer?
XM_006721264.4:c.1045_1046delinsAGC XP_006721327.1:p.Gly349SerfsTer?
XM_017023597.1:c.1045_1046delinsAGC XP_016879086.1:p.Gly349SerfsTer?
XM_017023598.1:c.1045_1046delinsAGC XP_016879087.1:p.Gly349SerfsTer?
XR_001751971.2:n.1084_1085delinsAGC
XR_001751972.2:n.1084_1085delinsAGC
NM_003119.4:c.1045_1046delinsAGC MANE Select NP_003110.1:p.Gly349SerfsTer?
NM_199367.3:c.1045_1046delinsAGC NP_955399.1:p.Gly349SerfsTer?