Canonical Allele Identifier: CA2658526650

Gene: SPAST

Linked Data

• gnomAD v4: 2-32127080-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32127083_32127085del , CM000664.2:g.32127083_32127085del	GRCh38
NC_000002.11:g.32352152_32352154del , CM000664.1:g.32352152_32352154del	GRCh37
NC_000002.10:g.32205656_32205658del	NCBI36
NG_008730.1:g.68473_68475del , LRG_714:g.68473_68475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*833+61_*833+63del	ENSP00000515816.1:n.*833+61_*833+63del
ENST00000315285.9:c.1173+61_1173+63del MANE Select	ENSP00000320885.3:n.1173+61_1173+63del
ENST00000621856.2:c.1170+61_1170+63del	ENSP00000482496.2:n.1170+61_1170+63del
ENST00000642281.1:c.983-9480_983-9478del
ENST00000642455.1:c.1074+61_1074+63del	ENSP00000493827.1:n.1074+61_1074+63del
ENST00000642751.1:c.947+61_947+63del
ENST00000642999.1:c.915+61_915+63del	ENSP00000496589.1:n.915+61_915+63del
ENST00000643327.1:c.332+61_332+63del
ENST00000643334.1:c.753+61_753+63del
ENST00000644408.1:c.1049+61_1049+63del
ENST00000644954.1:c.819+61_819+63del	ENSP00000494312.1:n.819+61_819+63del
ENST00000645159.1:n.586_588del
ENST00000645550.1:n.386+61_386+63del
ENST00000645671.1:c.623+61_623+63del
ENST00000645730.1:c.520+61_520+63del
ENST00000646082.1:c.819+61_819+63del
ENST00000646571.1:c.1077+61_1077+63del	ENSP00000495015.1:n.1077+61_1077+63del
ENST00000647007.1:n.865+61_865+63del
ENST00000647133.1:c.674-1325_674-1323del
ENST00000315285.7:c.1173+61_1173+63del	ENSP00000320885.3:n.1173+61_1173+63del
ENST00000345662.5:c.1077+61_1077+63del	ENSP00000340817.1:n.1077+61_1077+63del
ENST00000615843.4:c.1173+61_1173+63del	ENSP00000480893.1:n.1173+61_1173+63del
ENST00000621856.1:c.915+61_915+63del	ENSP00000482496.1:n.915+61_915+63del
NM_014946.3:c.1173+61_1173+63del , LRG_714t1:c.1173+61_1173+63del	NP_055761.2:n.1173+61_1173+63del
NM_199436.1:c.1077+61_1077+63del	NP_955468.1:n.1077+61_1077+63del
XM_005264516.3:c.1170+61_1170+63del	XP_005264573.1:n.1170+61_1170+63del
XM_011533067.1:c.1173+61_1173+63del	XP_011531369.1:n.1173+61_1173+63del
NM_001363823.1:c.1170+61_1170+63del	NP_001350752.1:n.1170+61_1170+63del
NM_001363875.1:c.1074+61_1074+63del	NP_001350804.1:n.1074+61_1074+63del
XM_005264516.5:c.1170+61_1170+63del	XP_005264573.1:n.1170+61_1170+63del
XM_011533067.2:c.1173+61_1173+63del	XP_011531369.1:n.1173+61_1173+63del
XM_017004778.2:c.1077+61_1077+63del	XP_016860267.1:n.1077+61_1077+63del
NM_001363823.2:c.1170+61_1170+63del	NP_001350752.1:n.1170+61_1170+63del
NM_001363875.2:c.1074+61_1074+63del	NP_001350804.1:n.1074+61_1074+63del
NM_001377959.1:c.1077+61_1077+63del	NP_001364888.1:n.1077+61_1077+63del
NM_014946.4:c.1173+61_1173+63del MANE Select	NP_055761.2:n.1173+61_1173+63del
NM_199436.2:c.1077+61_1077+63del	NP_955468.1:n.1077+61_1077+63del