Canonical Allele Identifier: CA1242498129

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128442_32128443delinsTC , CM000664.2:g.32128442_32128443delinsTC	GRCh38
NC_000002.11:g.32353511_32353512delinsTC , CM000664.1:g.32353511_32353512delinsTC	GRCh37
NC_000002.10:g.32207015_32207016delinsTC	NCBI36
NG_008730.1:g.69832_69833delinsTC , LRG_714:g.69832_69833delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*868_*869delinsTC	ENSP00000515816.1:n.*868_*869delinsTC
ENST00000315285.9:c.1208_1209delinsTC MANE Select	ENSP00000320885.3:p.Phe403=
ENST00000621856.2:c.1205_1206delinsTC	ENSP00000482496.2:p.Phe402=
ENST00000642281.1:c.983-8121_983-8120delinsTC
ENST00000642455.1:c.1109_1110delinsTC	ENSP00000493827.1:p.Phe370=
ENST00000642751.1:c.982_983delinsTC
ENST00000642999.1:c.950_951delinsTC	ENSP00000496589.1:p.Phe317=
ENST00000643327.1:c.367_368delinsTC
ENST00000643334.1:c.788_789delinsTC
ENST00000644408.1:c.1084_1085delinsTC
ENST00000644954.1:c.854_855delinsTC	ENSP00000494312.1:p.Phe285=
ENST00000645159.1:n.1945_1946delinsTC
ENST00000645550.1:n.421_422delinsTC
ENST00000645671.1:c.658_659delinsTC
ENST00000645730.1:c.555_556delinsTC
ENST00000646082.1:c.854_855delinsTC
ENST00000646571.1:c.1112_1113delinsTC	ENSP00000495015.1:p.Phe371=
ENST00000647007.1:n.900_901delinsTC
ENST00000647133.1:c.708_709delinsTC
ENST00000315285.7:c.1208_1209delinsTC	ENSP00000320885.3:p.Phe403=
ENST00000345662.5:c.1112_1113delinsTC	ENSP00000340817.1:p.Phe371=
ENST00000615843.4:c.1208_1209delinsTC	ENSP00000480893.1:p.Phe403=
ENST00000621856.1:c.950_951delinsTC	ENSP00000482496.1:p.Phe317=
NM_014946.3:c.1208_1209delinsTC , LRG_714t1:c.1208_1209delinsTC	NP_055761.2:p.Phe403=
NM_199436.1:c.1112_1113delinsTC	NP_955468.1:p.Phe371=
XM_005264516.3:c.1205_1206delinsTC	XP_005264573.1:p.Phe402=
XM_011533067.1:c.1208_1209delinsTC	XP_011531369.1:p.Phe403=
NM_001363823.1:c.1205_1206delinsTC	NP_001350752.1:p.Phe402=
NM_001363875.1:c.1109_1110delinsTC	NP_001350804.1:p.Phe370=
XM_005264516.5:c.1205_1206delinsTC	XP_005264573.1:p.Phe402=
XM_011533067.2:c.1208_1209delinsTC	XP_011531369.1:p.Phe403=
XM_017004778.2:c.1112_1113delinsTC	XP_016860267.1:p.Phe371=
NM_001363823.2:c.1205_1206delinsTC	NP_001350752.1:p.Phe402=
NM_001363875.2:c.1109_1110delinsTC	NP_001350804.1:p.Phe370=
NM_001377959.1:c.1112_1113delinsTC	NP_001364888.1:p.Phe371=
NM_014946.4:c.1208_1209delinsTC MANE Select	NP_055761.2:p.Phe403=
NM_199436.2:c.1112_1113delinsTC	NP_955468.1:p.Phe371=