Canonical Allele Identifier: CA2658527487

Gene: SPAST

Linked Data

• gnomAD v4: 2-32128410-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128413del , CM000664.2:g.32128413del	GRCh38
NC_000002.11:g.32353482del , CM000664.1:g.32353482del	GRCh37
NC_000002.10:g.32206986del	NCBI36
NG_008730.1:g.69803del , LRG_714:g.69803del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*839del	ENSP00000515816.1:n.*839del
ENST00000315285.9:c.1179del MANE Select	ENSP00000320885.3:p.Ala394GlnfsTer2
ENST00000621856.2:c.1176del	ENSP00000482496.2:p.Ala393GlnfsTer2
ENST00000642281.1:c.983-8150del
ENST00000642455.1:c.1080del	ENSP00000493827.1:p.Ala361GlnfsTer2
ENST00000642751.1:c.953del
ENST00000642999.1:c.921del	ENSP00000496589.1:p.Ala308GlnfsTer2
ENST00000643327.1:c.338del
ENST00000643334.1:c.759del
ENST00000644408.1:c.1055del
ENST00000644954.1:c.825del	ENSP00000494312.1:p.Ala276GlnfsTer2
ENST00000645159.1:n.1916del
ENST00000645550.1:n.392del
ENST00000645671.1:c.629del
ENST00000645730.1:c.526del
ENST00000646082.1:c.825del
ENST00000646571.1:c.1083del	ENSP00000495015.1:p.Ala362GlnfsTer2
ENST00000647007.1:n.871del
ENST00000647133.1:c.679del
ENST00000315285.7:c.1179del	ENSP00000320885.3:p.Ala394GlnfsTer2
ENST00000345662.5:c.1083del	ENSP00000340817.1:p.Ala362GlnfsTer2
ENST00000615843.4:c.1179del	ENSP00000480893.1:p.Ala394GlnfsTer2
ENST00000621856.1:c.921del	ENSP00000482496.1:p.Ala308GlnfsTer2
NM_014946.3:c.1179del , LRG_714t1:c.1179del	NP_055761.2:p.Ala394GlnfsTer2
NM_199436.1:c.1083del	NP_955468.1:p.Ala362GlnfsTer2
XM_005264516.3:c.1176del	XP_005264573.1:p.Ala393GlnfsTer2
XM_011533067.1:c.1179del	XP_011531369.1:p.Ala394GlnfsTer2
NM_001363823.1:c.1176del	NP_001350752.1:p.Ala393GlnfsTer2
NM_001363875.1:c.1080del	NP_001350804.1:p.Ala361GlnfsTer2
XM_005264516.5:c.1176del	XP_005264573.1:p.Ala393GlnfsTer2
XM_011533067.2:c.1179del	XP_011531369.1:p.Ala394GlnfsTer2
XM_017004778.2:c.1083del	XP_016860267.1:p.Ala362GlnfsTer2
NM_001363823.2:c.1176del	NP_001350752.1:p.Ala393GlnfsTer2
NM_001363875.2:c.1080del	NP_001350804.1:p.Ala361GlnfsTer2
NM_001377959.1:c.1083del	NP_001364888.1:p.Ala362GlnfsTer2
NM_014946.4:c.1179del MANE Select	NP_055761.2:p.Ala394GlnfsTer2
NM_199436.2:c.1083del	NP_955468.1:p.Ala362GlnfsTer2