Canonical Allele Identifier: CA1242504532

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32141940_32141943delinsTGAG , CM000664.2:g.32141940_32141943delinsTGAG	GRCh38
NC_000002.11:g.32367009_32367012delinsTGAG , CM000664.1:g.32367009_32367012delinsTGAG	GRCh37
NC_000002.10:g.32220513_32220516delinsTGAG	NCBI36
NG_008730.1:g.83330_83333delinsTGAG , LRG_714:g.83330_83333delinsTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1190_*1193delinsTGAG	ENSP00000515816.1:n.*1190_*1193delinsTGAG
ENST00000315285.9:c.1530_1533delinsTGAG MANE Select	ENSP00000320885.3:p.Asn510=
ENST00000621856.2:c.1527_1530delinsTGAG	ENSP00000482496.2:p.Asn509=
ENST00000642281.1:c.1267_1270delinsTGAG
ENST00000642455.1:c.1431_1434delinsTGAG	ENSP00000493827.1:p.Asn477=
ENST00000642751.1:c.1304_1307delinsTGAG
ENST00000642999.1:c.1272_1275delinsTGAG	ENSP00000496589.1:p.Asn424=
ENST00000643327.1:c.597_600delinsTGAG
ENST00000643334.1:c.1110_1113delinsTGAG
ENST00000644408.1:c.1406_1409delinsTGAG
ENST00000644954.1:c.1176_1179delinsTGAG	ENSP00000494312.1:p.Asn392=
ENST00000645159.1:n.2267_2270delinsTGAG
ENST00000645671.1:c.980_983delinsTGAG
ENST00000645730.1:c.709_712delinsTGAG
ENST00000646082.1:c.1176_1179delinsTGAG
ENST00000646571.1:c.1434_1437delinsTGAG	ENSP00000495015.1:p.Asn478=
ENST00000647007.1:n.1222_1225delinsTGAG
ENST00000647133.1:c.1030_1033delinsTGAG
ENST00000315285.7:c.1530_1533delinsTGAG	ENSP00000320885.3:p.Asn510=
ENST00000345662.5:c.1434_1437delinsTGAG	ENSP00000340817.1:p.Asn478=
ENST00000615843.4:c.1530_1533delinsTGAG	ENSP00000480893.1:p.Asn510=
ENST00000621856.1:c.1272_1275delinsTGAG	ENSP00000482496.1:p.Asn424=
NM_014946.3:c.1530_1533delinsTGAG , LRG_714t1:c.1530_1533delinsTGAG	NP_055761.2:p.Asn510=
NM_199436.1:c.1434_1437delinsTGAG	NP_955468.1:p.Asn478=
XM_005264516.3:c.1527_1530delinsTGAG	XP_005264573.1:p.Asn509=
XM_011533067.1:c.1530_1533delinsTGAG	XP_011531369.1:p.Asn510=
NM_001363823.1:c.1527_1530delinsTGAG	NP_001350752.1:p.Asn509=
NM_001363875.1:c.1431_1434delinsTGAG	NP_001350804.1:p.Asn477=
XM_005264516.5:c.1527_1530delinsTGAG	XP_005264573.1:p.Asn509=
XM_011533067.2:c.1530_1533delinsTGAG	XP_011531369.1:p.Asn510=
XM_017004778.2:c.1434_1437delinsTGAG	XP_016860267.1:p.Asn478=
NM_001363823.2:c.1527_1530delinsTGAG	NP_001350752.1:p.Asn509=
NM_001363875.2:c.1431_1434delinsTGAG	NP_001350804.1:p.Asn477=
NM_001377959.1:c.1434_1437delinsTGAG	NP_001364888.1:p.Asn478=
NM_014946.4:c.1530_1533delinsTGAG MANE Select	NP_055761.2:p.Asn510=
NM_199436.2:c.1434_1437delinsTGAG	NP_955468.1:p.Asn478=