Canonical Allele Identifier: CA2576930343

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32127047_32127058del , CM000664.2:g.32127047_32127058del	GRCh38
NC_000002.11:g.32352116_32352127del , CM000664.1:g.32352116_32352127del	GRCh37
NC_000002.10:g.32205620_32205631del	NCBI36
NG_008730.1:g.68437_68448del , LRG_714:g.68437_68448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*833+25_*833+36del	ENSP00000515816.1:n.*833+25_*833+36del
ENST00000315285.9:c.1173+25_1173+36del MANE Select	ENSP00000320885.3:n.1173+25_1173+36del
ENST00000621856.2:c.1170+25_1170+36del	ENSP00000482496.2:n.1170+25_1170+36del
ENST00000642281.1:c.983-9516_983-9505del
ENST00000642455.1:c.1074+25_1074+36del	ENSP00000493827.1:n.1074+25_1074+36del
ENST00000642751.1:c.947+25_947+36del
ENST00000642999.1:c.915+25_915+36del	ENSP00000496589.1:n.915+25_915+36del
ENST00000643327.1:c.332+25_332+36del
ENST00000643334.1:c.753+25_753+36del
ENST00000644408.1:c.1049+25_1049+36del
ENST00000644954.1:c.819+25_819+36del	ENSP00000494312.1:n.819+25_819+36del
ENST00000645159.1:n.550_561del
ENST00000645550.1:n.386+25_386+36del
ENST00000645671.1:c.623+25_623+36del
ENST00000645730.1:c.520+25_520+36del
ENST00000646082.1:c.819+25_819+36del
ENST00000646571.1:c.1077+25_1077+36del	ENSP00000495015.1:n.1077+25_1077+36del
ENST00000647007.1:n.865+25_865+36del
ENST00000647133.1:c.674-1361_674-1350del
ENST00000315285.7:c.1173+25_1173+36del	ENSP00000320885.3:n.1173+25_1173+36del
ENST00000345662.5:c.1077+25_1077+36del	ENSP00000340817.1:n.1077+25_1077+36del
ENST00000615843.4:c.1173+25_1173+36del	ENSP00000480893.1:n.1173+25_1173+36del
ENST00000621856.1:c.915+25_915+36del	ENSP00000482496.1:n.915+25_915+36del
NM_014946.3:c.1173+25_1173+36del , LRG_714t1:c.1173+25_1173+36del	NP_055761.2:n.1173+25_1173+36del
NM_199436.1:c.1077+25_1077+36del	NP_955468.1:n.1077+25_1077+36del
XM_005264516.3:c.1170+25_1170+36del	XP_005264573.1:n.1170+25_1170+36del
XM_011533067.1:c.1173+25_1173+36del	XP_011531369.1:n.1173+25_1173+36del
NM_001363823.1:c.1170+25_1170+36del	NP_001350752.1:n.1170+25_1170+36del
NM_001363875.1:c.1074+25_1074+36del	NP_001350804.1:n.1074+25_1074+36del
XM_005264516.5:c.1170+25_1170+36del	XP_005264573.1:n.1170+25_1170+36del
XM_011533067.2:c.1173+25_1173+36del	XP_011531369.1:n.1173+25_1173+36del
XM_017004778.2:c.1077+25_1077+36del	XP_016860267.1:n.1077+25_1077+36del
NM_001363823.2:c.1170+25_1170+36del	NP_001350752.1:n.1170+25_1170+36del
NM_001363875.2:c.1074+25_1074+36del	NP_001350804.1:n.1074+25_1074+36del
NM_001377959.1:c.1077+25_1077+36del	NP_001364888.1:n.1077+25_1077+36del
NM_014946.4:c.1173+25_1173+36del MANE Select	NP_055761.2:n.1173+25_1173+36del
NM_199436.2:c.1077+25_1077+36del	NP_955468.1:n.1077+25_1077+36del