Canonical Allele Identifier: CA2576930326

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32127004del , CM000664.2:g.32127004del	GRCh38
NC_000002.11:g.32352073del , CM000664.1:g.32352073del	GRCh37
NC_000002.10:g.32205577del	NCBI36
NG_008730.1:g.68394del , LRG_714:g.68394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*815del	ENSP00000515816.1:n.*815del
ENST00000315285.9:c.1155del MANE Select	ENSP00000320885.3:p.Asn386MetfsTer10
ENST00000621856.2:c.1152del	ENSP00000482496.2:p.Asn385MetfsTer10
ENST00000642281.1:c.983-9559del
ENST00000642455.1:c.1056del	ENSP00000493827.1:p.Asn353MetfsTer10
ENST00000642751.1:c.929del
ENST00000642999.1:c.897del	ENSP00000496589.1:p.Asn300MetfsTer10
ENST00000643327.1:c.314del
ENST00000643334.1:c.735del
ENST00000644408.1:c.1031del
ENST00000644954.1:c.801del	ENSP00000494312.1:p.Asn268MetfsTer10
ENST00000645159.1:n.507del
ENST00000645550.1:n.368del
ENST00000645671.1:c.605del
ENST00000645730.1:c.502del
ENST00000646082.1:c.801del
ENST00000646571.1:c.1059del	ENSP00000495015.1:p.Asn354MetfsTer10
ENST00000647007.1:n.847del
ENST00000647133.1:c.674-1404del
ENST00000315285.7:c.1155del	ENSP00000320885.3:p.Asn386MetfsTer10
ENST00000345662.5:c.1059del	ENSP00000340817.1:p.Asn354MetfsTer10
ENST00000615843.4:c.1155del	ENSP00000480893.1:p.Asn386MetfsTer10
ENST00000621856.1:c.897del	ENSP00000482496.1:p.Asn300MetfsTer10
NM_014946.3:c.1155del , LRG_714t1:c.1155del	NP_055761.2:p.Asn386MetfsTer10
NM_199436.1:c.1059del	NP_955468.1:p.Asn354MetfsTer10
XM_005264516.3:c.1152del	XP_005264573.1:p.Asn385MetfsTer10
XM_011533067.1:c.1155del	XP_011531369.1:p.Asn386MetfsTer10
NM_001363823.1:c.1152del	NP_001350752.1:p.Asn385MetfsTer10
NM_001363875.1:c.1056del	NP_001350804.1:p.Asn353MetfsTer10
XM_005264516.5:c.1152del	XP_005264573.1:p.Asn385MetfsTer10
XM_011533067.2:c.1155del	XP_011531369.1:p.Asn386MetfsTer10
XM_017004778.2:c.1059del	XP_016860267.1:p.Asn354MetfsTer10
NM_001363823.2:c.1152del	NP_001350752.1:p.Asn385MetfsTer10
NM_001363875.2:c.1056del	NP_001350804.1:p.Asn353MetfsTer10
NM_001377959.1:c.1059del	NP_001364888.1:p.Asn354MetfsTer10
NM_014946.4:c.1155del MANE Select	NP_055761.2:p.Asn386MetfsTer10
NM_199436.2:c.1059del	NP_955468.1:p.Asn354MetfsTer10