Canonical Allele Identifier: CA2658526689

Gene: SPAST

Linked Data

• gnomAD v4: 2-32127144-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32127145dup , CM000664.2:g.32127145dup	GRCh38
NC_000002.11:g.32352214dup , CM000664.1:g.32352214dup	GRCh37
NC_000002.10:g.32205718dup	NCBI36
NG_008730.1:g.68535dup , LRG_714:g.68535dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*833+123dup	ENSP00000515816.1:n.*833+123dup
ENST00000315285.9:c.1173+123dup MANE Select	ENSP00000320885.3:n.1173+123dup
ENST00000621856.2:c.1170+123dup	ENSP00000482496.2:n.1170+123dup
ENST00000642281.1:c.983-9418dup
ENST00000642455.1:c.1074+123dup	ENSP00000493827.1:n.1074+123dup
ENST00000642751.1:c.947+123dup
ENST00000642999.1:c.915+123dup	ENSP00000496589.1:n.915+123dup
ENST00000643327.1:c.332+123dup
ENST00000643334.1:c.753+123dup
ENST00000644408.1:c.1049+123dup
ENST00000644954.1:c.819+123dup	ENSP00000494312.1:n.819+123dup
ENST00000645159.1:n.648dup
ENST00000645550.1:n.386+123dup
ENST00000645671.1:c.623+123dup
ENST00000645730.1:c.520+123dup
ENST00000646082.1:c.819+123dup
ENST00000646571.1:c.1077+123dup	ENSP00000495015.1:n.1077+123dup
ENST00000647007.1:n.865+123dup
ENST00000647133.1:c.674-1263dup
ENST00000315285.7:c.1173+123dup	ENSP00000320885.3:n.1173+123dup
ENST00000345662.5:c.1077+123dup	ENSP00000340817.1:n.1077+123dup
ENST00000615843.4:c.1173+123dup	ENSP00000480893.1:n.1173+123dup
ENST00000621856.1:c.915+123dup	ENSP00000482496.1:n.915+123dup
NM_014946.3:c.1173+123dup , LRG_714t1:c.1173+123dup	NP_055761.2:n.1173+123dup
NM_199436.1:c.1077+123dup	NP_955468.1:n.1077+123dup
XM_005264516.3:c.1170+123dup	XP_005264573.1:n.1170+123dup
XM_011533067.1:c.1173+123dup	XP_011531369.1:n.1173+123dup
NM_001363823.1:c.1170+123dup	NP_001350752.1:n.1170+123dup
NM_001363875.1:c.1074+123dup	NP_001350804.1:n.1074+123dup
XM_005264516.5:c.1170+123dup	XP_005264573.1:n.1170+123dup
XM_011533067.2:c.1173+123dup	XP_011531369.1:n.1173+123dup
XM_017004778.2:c.1077+123dup	XP_016860267.1:n.1077+123dup
NM_001363823.2:c.1170+123dup	NP_001350752.1:n.1170+123dup
NM_001363875.2:c.1074+123dup	NP_001350804.1:n.1074+123dup
NM_001377959.1:c.1077+123dup	NP_001364888.1:n.1077+123dup
NM_014946.4:c.1173+123dup MANE Select	NP_055761.2:n.1173+123dup
NM_199436.2:c.1077+123dup	NP_955468.1:n.1077+123dup