Canonical Allele Identifier: CA44742773

Gene: SPAST

Linked Data

• dbSNP Id: rs748596099
• gnomAD v4: 2-32128396-TG-T
• MyVariant Identifiers: chr2:g.32353466del (hg19) ; chr2:g.32128397del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128397del , CM000664.2:g.32128397del	GRCh38
NC_000002.11:g.32353466del , CM000664.1:g.32353466del	GRCh37
NC_000002.10:g.32206970del	NCBI36
NG_008730.1:g.69787del , LRG_714:g.69787del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*834-11del	ENSP00000515816.1:n.*834-11del
ENST00000315285.9:c.1174-11del MANE Select	ENSP00000320885.3:n.1174-11del
ENST00000621856.2:c.1171-11del	ENSP00000482496.2:n.1171-11del
ENST00000642281.1:c.983-8166del
ENST00000642455.1:c.1075-11del	ENSP00000493827.1:n.1075-11del
ENST00000642751.1:c.948-11del
ENST00000642999.1:c.916-11del	ENSP00000496589.1:n.916-11del
ENST00000643327.1:c.333-11del
ENST00000643334.1:c.754-11del
ENST00000644408.1:c.1050-11del
ENST00000644954.1:c.820-11del	ENSP00000494312.1:n.820-11del
ENST00000645159.1:n.1900del
ENST00000645550.1:n.387-11del
ENST00000645671.1:c.624-11del
ENST00000645730.1:c.521-11del
ENST00000646082.1:c.820-11del
ENST00000646571.1:c.1078-11del	ENSP00000495015.1:n.1078-11del
ENST00000647007.1:n.866-11del
ENST00000647133.1:c.674-11del
ENST00000315285.7:c.1174-11del	ENSP00000320885.3:n.1174-11del
ENST00000345662.5:c.1078-11del	ENSP00000340817.1:n.1078-11del
ENST00000615843.4:c.1174-11del	ENSP00000480893.1:n.1174-11del
ENST00000621856.1:c.916-11del	ENSP00000482496.1:n.916-11del
NM_014946.3:c.1174-11del , LRG_714t1:c.1174-11del	NP_055761.2:n.1174-11del
NM_199436.1:c.1078-11del	NP_955468.1:n.1078-11del
XM_005264516.3:c.1171-11del	XP_005264573.1:n.1171-11del
XM_011533067.1:c.1174-11del	XP_011531369.1:n.1174-11del
NM_001363823.1:c.1171-11del	NP_001350752.1:n.1171-11del
NM_001363875.1:c.1075-11del	NP_001350804.1:n.1075-11del
XM_005264516.5:c.1171-11del	XP_005264573.1:n.1171-11del
XM_011533067.2:c.1174-11del	XP_011531369.1:n.1174-11del
XM_017004778.2:c.1078-11del	XP_016860267.1:n.1078-11del
NM_001363823.2:c.1171-11del	NP_001350752.1:n.1171-11del
NM_001363875.2:c.1075-11del	NP_001350804.1:n.1075-11del
NM_001377959.1:c.1078-11del	NP_001364888.1:n.1078-11del
NM_014946.4:c.1174-11del MANE Select	NP_055761.2:n.1174-11del
NM_199436.2:c.1078-11del	NP_955468.1:n.1078-11del