Canonical Allele Identifier: CA2658526645

Gene: SPAST

Linked Data

• gnomAD v4: 2-32127074-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32127075del , CM000664.2:g.32127075del	GRCh38
NC_000002.11:g.32352144del , CM000664.1:g.32352144del	GRCh37
NC_000002.10:g.32205648del	NCBI36
NG_008730.1:g.68465del , LRG_714:g.68465del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*833+53del	ENSP00000515816.1:n.*833+53del
ENST00000315285.9:c.1173+53del MANE Select	ENSP00000320885.3:n.1173+53del
ENST00000621856.2:c.1170+53del	ENSP00000482496.2:n.1170+53del
ENST00000642281.1:c.983-9488del
ENST00000642455.1:c.1074+53del	ENSP00000493827.1:n.1074+53del
ENST00000642751.1:c.947+53del
ENST00000642999.1:c.915+53del	ENSP00000496589.1:n.915+53del
ENST00000643327.1:c.332+53del
ENST00000643334.1:c.753+53del
ENST00000644408.1:c.1049+53del
ENST00000644954.1:c.819+53del	ENSP00000494312.1:n.819+53del
ENST00000645159.1:n.578del
ENST00000645550.1:n.386+53del
ENST00000645671.1:c.623+53del
ENST00000645730.1:c.520+53del
ENST00000646082.1:c.819+53del
ENST00000646571.1:c.1077+53del	ENSP00000495015.1:n.1077+53del
ENST00000647007.1:n.865+53del
ENST00000647133.1:c.674-1333del
ENST00000315285.7:c.1173+53del	ENSP00000320885.3:n.1173+53del
ENST00000345662.5:c.1077+53del	ENSP00000340817.1:n.1077+53del
ENST00000615843.4:c.1173+53del	ENSP00000480893.1:n.1173+53del
ENST00000621856.1:c.915+53del	ENSP00000482496.1:n.915+53del
NM_014946.3:c.1173+53del , LRG_714t1:c.1173+53del	NP_055761.2:n.1173+53del
NM_199436.1:c.1077+53del	NP_955468.1:n.1077+53del
XM_005264516.3:c.1170+53del	XP_005264573.1:n.1170+53del
XM_011533067.1:c.1173+53del	XP_011531369.1:n.1173+53del
NM_001363823.1:c.1170+53del	NP_001350752.1:n.1170+53del
NM_001363875.1:c.1074+53del	NP_001350804.1:n.1074+53del
XM_005264516.5:c.1170+53del	XP_005264573.1:n.1170+53del
XM_011533067.2:c.1173+53del	XP_011531369.1:n.1173+53del
XM_017004778.2:c.1077+53del	XP_016860267.1:n.1077+53del
NM_001363823.2:c.1170+53del	NP_001350752.1:n.1170+53del
NM_001363875.2:c.1074+53del	NP_001350804.1:n.1074+53del
NM_001377959.1:c.1077+53del	NP_001364888.1:n.1077+53del
NM_014946.4:c.1173+53del MANE Select	NP_055761.2:n.1173+53del
NM_199436.2:c.1077+53del	NP_955468.1:n.1077+53del