Canonical Allele Identifier: CA2586964658

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126981_32126992delinsACCCTCCCAG , CM000664.2:g.32126981_32126992delinsACCCTCCCAG	GRCh38
NC_000002.11:g.32352050_32352061delinsACCCTCCCAG , CM000664.1:g.32352050_32352061delinsACCCTCCCAG	GRCh37
NC_000002.10:g.32205554_32205565delinsACCCTCCCAG	NCBI36
NG_008730.1:g.68371_68382delinsACCCTCCCAG , LRG_714:g.68371_68382delinsACCCTCCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*792_*803delinsACCCTCCCAG	ENSP00000515816.1:n.*792_*803delinsACCCTCCCAG
ENST00000315285.9:c.1132_1143delinsACCCTCCCAG MANE Select	ENSP00000320885.3:p.Leu378ThrfsTer15
ENST00000621856.2:c.1129_1140delinsACCCTCCCAG	ENSP00000482496.2:p.Leu377ThrfsTer15
ENST00000642281.1:c.983-9582_983-9571delinsACCCTCCCAG
ENST00000642455.1:c.1033_1044delinsACCCTCCCAG	ENSP00000493827.1:p.Leu345ThrfsTer15
ENST00000642751.1:c.906_917delinsACCCTCCCAG
ENST00000642999.1:c.874_885delinsACCCTCCCAG	ENSP00000496589.1:p.Leu292ThrfsTer15
ENST00000643327.1:c.291_302delinsACCCTCCCAG
ENST00000643334.1:c.712_723delinsACCCTCCCAG
ENST00000644408.1:c.1008_1019delinsACCCTCCCAG
ENST00000644954.1:c.778_789delinsACCCTCCCAG	ENSP00000494312.1:p.Leu260ThrfsTer15
ENST00000645159.1:n.484_495delinsACCCTCCCAG
ENST00000645550.1:n.345_356delinsACCCTCCCAG
ENST00000645671.1:c.582_593delinsACCCTCCCAG
ENST00000645730.1:c.479_490delinsACCCTCCCAG
ENST00000646082.1:c.778_789delinsACCCTCCCAG
ENST00000646571.1:c.1036_1047delinsACCCTCCCAG	ENSP00000495015.1:p.Leu346ThrfsTer15
ENST00000647007.1:n.824_835delinsACCCTCCCAG
ENST00000647133.1:c.674-1427_674-1416delinsACCCTCCCAG
ENST00000315285.7:c.1132_1143delinsACCCTCCCAG	ENSP00000320885.3:p.Leu378ThrfsTer15
ENST00000345662.5:c.1036_1047delinsACCCTCCCAG	ENSP00000340817.1:p.Leu346ThrfsTer15
ENST00000615843.4:c.1132_1143delinsACCCTCCCAG	ENSP00000480893.1:p.Leu378ThrfsTer15
ENST00000621856.1:c.874_885delinsACCCTCCCAG	ENSP00000482496.1:p.Leu292ThrfsTer15
NM_014946.3:c.1132_1143delinsACCCTCCCAG , LRG_714t1:c.1132_1143delinsACCCTCCCAG	NP_055761.2:p.Leu378ThrfsTer15
NM_199436.1:c.1036_1047delinsACCCTCCCAG	NP_955468.1:p.Leu346ThrfsTer15
XM_005264516.3:c.1129_1140delinsACCCTCCCAG	XP_005264573.1:p.Leu377ThrfsTer15
XM_011533067.1:c.1132_1143delinsACCCTCCCAG	XP_011531369.1:p.Leu378ThrfsTer15
NM_001363823.1:c.1129_1140delinsACCCTCCCAG	NP_001350752.1:p.Leu377ThrfsTer15
NM_001363875.1:c.1033_1044delinsACCCTCCCAG	NP_001350804.1:p.Leu345ThrfsTer15
XM_005264516.5:c.1129_1140delinsACCCTCCCAG	XP_005264573.1:p.Leu377ThrfsTer15
XM_011533067.2:c.1132_1143delinsACCCTCCCAG	XP_011531369.1:p.Leu378ThrfsTer15
XM_017004778.2:c.1036_1047delinsACCCTCCCAG	XP_016860267.1:p.Leu346ThrfsTer15
NM_001363823.2:c.1129_1140delinsACCCTCCCAG	NP_001350752.1:p.Leu377ThrfsTer15
NM_001363875.2:c.1033_1044delinsACCCTCCCAG	NP_001350804.1:p.Leu345ThrfsTer15
NM_001377959.1:c.1036_1047delinsACCCTCCCAG	NP_001364888.1:p.Leu346ThrfsTer15
NM_014946.4:c.1132_1143delinsACCCTCCCAG MANE Select	NP_055761.2:p.Leu378ThrfsTer15
NM_199436.2:c.1036_1047delinsACCCTCCCAG	NP_955468.1:p.Leu346ThrfsTer15