Canonical Allele Identifier: CA8243917

Gene: SPG7

Linked Data

• ClinVar Variation Id: 495055
• ClinVar RCV Id: RCV000585677 ; RCV000996406
• dbSNP Id: rs775364547
• ExAC: 16:89598368 CGGCCCCCCCGGCTGTGGGAAGACGCTGCT / C
• gnomAD v2: 16-89598368-CGGCCCCCCCGGCTGTGGGAAGACGCTGCT-C
• gnomAD v3: 16-89531960-CGGCCCCCCCGGCTGTGGGAAGACGCTGCT-C
• gnomAD v4: 16-89531960-CGGCCCCCCCGGCTGTGGGAAGACGCTGCT-C
• MyVariant Identifiers: chr16:g.89598373_89598401del (hg19) ; chr16:g.89598369_89598397del (hg19) ; chr16:g.89531965_89531993del (hg38) ; chr16:g.89531961_89531989del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89531965_89531993del , CM000678.2:g.89531965_89531993del	GRCh38
NC_000016.9:g.89598373_89598401del , CM000678.1:g.89598373_89598401del	GRCh37
NC_000016.8:g.88125874_88125902del	NCBI36
NG_008082.1:g.28569_28597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268704.7:c.1028_1056del	ENSP00000268704.3:p.Pro343GlnfsTer?
ENST00000561945.2:n.194_222del
ENST00000564409.2:c.1105_1133del	ENSP00000495297.1:n.1105_1133del
ENST00000566682.2:c.62_90del	ENSP00000461979.2:p.Pro21GlnfsTer?
ENST00000642334.1:c.922_950del
ENST00000642371.1:c.1128_1156del
ENST00000642427.1:n.449_477del
ENST00000642436.1:n.389-8979_389-8951del
ENST00000643105.1:c.969_997del
ENST00000643178.1:n.594_622del
ENST00000643307.1:c.1049_1077del	ENSP00000495673.1:p.Pro350GlnfsTer?
ENST00000643345.1:c.*573_*601del	ENSP00000493982.1:n.*573_*601del
ENST00000643370.1:c.325-498_325-470del	ENSP00000494895.1:n.325-498_325-470del
ENST00000643496.1:n.866_894del
ENST00000643649.1:c.1049_1077del	ENSP00000494806.1:p.Pro350GlnfsTer?
ENST00000643668.1:c.*1343_*1371del	ENSP00000494903.1:n.*1343_*1371del
ENST00000643724.1:c.*497+1157_*497+1185del	ENSP00000496335.1:n.*497+1157_*497+1185del
ENST00000643954.1:c.787_815del
ENST00000644171.1:n.1023_1051del
ENST00000644210.1:c.1049_1077del	ENSP00000495675.1:p.Pro350GlnfsTer?
ENST00000644225.1:n.1066_1094del
ENST00000644498.1:c.1028_1056del	ENSP00000496244.1:p.Pro343GlnfsTer?
ENST00000644671.1:c.706_734del
ENST00000644748.1:n.2480_2508del
ENST00000644751.1:c.451_479del
ENST00000644781.1:c.1049_1077del	ENSP00000495473.1:p.Pro350GlnfsTer?
ENST00000644901.1:c.*1002_*1030del	ENSP00000493797.1:n.*1002_*1030del
ENST00000645042.1:c.1049_1077del	ENSP00000493908.1:p.Pro350GlnfsTer?
ENST00000645063.1:c.1049_1077del	ENSP00000493590.1:p.Pro350GlnfsTer?
ENST00000645354.1:c.1809_1837del
ENST00000645818.2:c.1049_1077del MANE Select	ENSP00000495795.2:p.Pro350GlnfsTer?
ENST00000645886.1:c.276_304del
ENST00000645897.1:c.987+1157_987+1185del	ENSP00000495293.1:n.987+1157_987+1185del
ENST00000645977.1:n.2167_2195del
ENST00000646263.1:c.1049_1077del	ENSP00000494119.1:p.Pro350GlnfsTer?
ENST00000646303.1:c.917_945del	ENSP00000494160.1:p.Pro306GlnfsTer?
ENST00000646399.1:c.732_760del
ENST00000646445.1:c.183-12683_183-12655del
ENST00000646454.1:n.710+1008_710+1036del
ENST00000646531.1:c.1049_1077del	ENSP00000495185.1:p.Pro350GlnfsTer?
ENST00000646589.1:c.*177_*205del	ENSP00000494739.1:n.*177_*205del
ENST00000646716.1:c.377-12683_377-12655del	ENSP00000495593.1:n.377-12683_377-12655del
ENST00000646826.1:c.1049_1077del	ENSP00000495123.1:p.Pro350GlnfsTer?
ENST00000646930.1:c.1049_1077del	ENSP00000495219.1:p.Pro350GlnfsTer?
ENST00000646958.1:n.2094_2122del
ENST00000647032.1:c.664_692del
ENST00000647079.1:c.641_669del	ENSP00000495967.1:p.Pro214GlnfsTer?
ENST00000647227.1:c.812_840del
ENST00000268704.6:c.1049_1077del	ENSP00000268704.2:p.Pro350GlnfsTer?
ENST00000341316.6:c.1049_1077del	ENSP00000341157.2:p.Pro350GlnfsTer?
ENST00000561945.1:n.93_121del
ENST00000564409.1:n.508_536del
ENST00000620811.4:c.-528_-500del	ENSP00000478030.1:n.-528_-500del
NM_003119.3:c.1049_1077del	NP_003110.1:p.Pro350GlnfsTer?
NM_199367.2:c.1049_1077del	NP_955399.1:p.Pro350GlnfsTer?
XM_005256321.3:c.1049_1077del	XP_005256378.1:p.Pro350GlnfsTer?
XM_006721264.2:c.1049_1077del	XP_006721327.1:p.Pro350GlnfsTer?
XM_011523306.1:c.1049_1077del	XP_011521608.1:p.Pro350GlnfsTer?
XM_011523307.1:c.1049_1077del	XP_011521609.1:p.Pro350GlnfsTer?
NM_001363850.1:c.1049_1077del	NP_001350779.1:p.Pro350GlnfsTer?
XM_005256321.4:c.1049_1077del	XP_005256378.1:p.Pro350GlnfsTer?
XM_006721264.4:c.1049_1077del	XP_006721327.1:p.Pro350GlnfsTer?
XM_017023597.1:c.1049_1077del	XP_016879086.1:p.Pro350GlnfsTer?
XM_017023598.1:c.1049_1077del	XP_016879087.1:p.Pro350GlnfsTer?
XR_001751971.2:n.1088_1116del
XR_001751972.2:n.1088_1116del
NM_003119.4:c.1049_1077del MANE Select	NP_003110.1:p.Pro350GlnfsTer?
NM_199367.3:c.1049_1077del	NP_955399.1:p.Pro350GlnfsTer?