Canonical Allele Identifier: CA1242498131

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128443_32128446delinsCTTT , CM000664.2:g.32128443_32128446delinsCTTT	GRCh38
NC_000002.11:g.32353512_32353515delinsCTTT , CM000664.1:g.32353512_32353515delinsCTTT	GRCh37
NC_000002.10:g.32207016_32207019delinsCTTT	NCBI36
NG_008730.1:g.69833_69836delinsCTTT , LRG_714:g.69833_69836delinsCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*869_*872delinsCTTT	ENSP00000515816.1:n.*869_*872delinsCTTT
ENST00000315285.9:c.1209_1212delinsCTTT MANE Select	ENSP00000320885.3:p.Phe403=
ENST00000621856.2:c.1206_1209delinsCTTT	ENSP00000482496.2:p.Phe402=
ENST00000642281.1:c.983-8120_983-8117delinsCTTT
ENST00000642455.1:c.1110_1113delinsCTTT	ENSP00000493827.1:p.Phe370=
ENST00000642751.1:c.983_986delinsCTTT
ENST00000642999.1:c.951_954delinsCTTT	ENSP00000496589.1:p.Phe317=
ENST00000643327.1:c.368_371delinsCTTT
ENST00000643334.1:c.789_792delinsCTTT
ENST00000644408.1:c.1085_1088delinsCTTT
ENST00000644954.1:c.855_858delinsCTTT	ENSP00000494312.1:p.Phe285=
ENST00000645159.1:n.1946_1949delinsCTTT
ENST00000645550.1:n.422_425delinsCTTT
ENST00000645671.1:c.659_662delinsCTTT
ENST00000645730.1:c.556_559delinsCTTT
ENST00000646082.1:c.855_858delinsCTTT
ENST00000646571.1:c.1113_1116delinsCTTT	ENSP00000495015.1:p.Phe371=
ENST00000647007.1:n.901_904delinsCTTT
ENST00000647133.1:c.709_712delinsCTTT
ENST00000315285.7:c.1209_1212delinsCTTT	ENSP00000320885.3:p.Phe403=
ENST00000345662.5:c.1113_1116delinsCTTT	ENSP00000340817.1:p.Phe371=
ENST00000615843.4:c.1209_1212delinsCTTT	ENSP00000480893.1:p.Phe403=
ENST00000621856.1:c.951_954delinsCTTT	ENSP00000482496.1:p.Phe317=
NM_014946.3:c.1209_1212delinsCTTT , LRG_714t1:c.1209_1212delinsCTTT	NP_055761.2:p.Phe403=
NM_199436.1:c.1113_1116delinsCTTT	NP_955468.1:p.Phe371=
XM_005264516.3:c.1206_1209delinsCTTT	XP_005264573.1:p.Phe402=
XM_011533067.1:c.1209_1212delinsCTTT	XP_011531369.1:p.Phe403=
NM_001363823.1:c.1206_1209delinsCTTT	NP_001350752.1:p.Phe402=
NM_001363875.1:c.1110_1113delinsCTTT	NP_001350804.1:p.Phe370=
XM_005264516.5:c.1206_1209delinsCTTT	XP_005264573.1:p.Phe402=
XM_011533067.2:c.1209_1212delinsCTTT	XP_011531369.1:p.Phe403=
XM_017004778.2:c.1113_1116delinsCTTT	XP_016860267.1:p.Phe371=
NM_001363823.2:c.1206_1209delinsCTTT	NP_001350752.1:p.Phe402=
NM_001363875.2:c.1110_1113delinsCTTT	NP_001350804.1:p.Phe370=
NM_001377959.1:c.1113_1116delinsCTTT	NP_001364888.1:p.Phe371=
NM_014946.4:c.1209_1212delinsCTTT MANE Select	NP_055761.2:p.Phe403=
NM_199436.2:c.1113_1116delinsCTTT	NP_955468.1:p.Phe371=