Canonical Allele Identifier: CA2658522813

Gene: SPAST

Linked Data

• gnomAD v4: 2-32142096-GCCAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32142097_32142101del , CM000664.2:g.32142097_32142101del	GRCh38
NC_000002.11:g.32367166_32367170del , CM000664.1:g.32367166_32367170del	GRCh37
NC_000002.10:g.32220670_32220674del	NCBI36
NG_008730.1:g.83487_83491del , LRG_714:g.83487_83491del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1196+151_*1196+155del	ENSP00000515816.1:n.*1196+151_*1196+155del
ENST00000315285.9:c.1536+151_1536+155del MANE Select	ENSP00000320885.3:n.1536+151_1536+155del
ENST00000621856.2:c.1533+151_1533+155del	ENSP00000482496.2:n.1533+151_1533+155del
ENST00000642281.1:c.1273+151_1273+155del
ENST00000642455.1:c.1437+151_1437+155del	ENSP00000493827.1:n.1437+151_1437+155del
ENST00000642751.1:c.1310+151_1310+155del
ENST00000642999.1:c.1278+151_1278+155del	ENSP00000496589.1:n.1278+151_1278+155del
ENST00000643327.1:c.603+151_603+155del
ENST00000643334.1:c.1116+151_1116+155del
ENST00000644408.1:c.1412+151_1412+155del
ENST00000644954.1:c.1182+151_1182+155del	ENSP00000494312.1:n.1182+151_1182+155del
ENST00000645159.1:n.2273+151_2273+155del
ENST00000645671.1:c.986+151_986+155del
ENST00000645730.1:c.715+151_715+155del
ENST00000646082.1:c.1182+151_1182+155del
ENST00000646571.1:c.1440+151_1440+155del	ENSP00000495015.1:n.1440+151_1440+155del
ENST00000647007.1:n.1228+151_1228+155del
ENST00000647133.1:c.1036+151_1036+155del
ENST00000315285.7:c.1536+151_1536+155del	ENSP00000320885.3:n.1536+151_1536+155del
ENST00000345662.5:c.1440+151_1440+155del	ENSP00000340817.1:n.1440+151_1440+155del
ENST00000615843.4:c.1536+151_1536+155del	ENSP00000480893.1:n.1536+151_1536+155del
ENST00000621856.1:c.1278+151_1278+155del	ENSP00000482496.1:n.1278+151_1278+155del
NM_014946.3:c.1536+151_1536+155del , LRG_714t1:c.1536+151_1536+155del	NP_055761.2:n.1536+151_1536+155del
NM_199436.1:c.1440+151_1440+155del	NP_955468.1:n.1440+151_1440+155del
XM_005264516.3:c.1533+151_1533+155del	XP_005264573.1:n.1533+151_1533+155del
XM_011533067.1:c.1536+151_1536+155del	XP_011531369.1:n.1536+151_1536+155del
NM_001363823.1:c.1533+151_1533+155del	NP_001350752.1:n.1533+151_1533+155del
NM_001363875.1:c.1437+151_1437+155del	NP_001350804.1:n.1437+151_1437+155del
XM_005264516.5:c.1533+151_1533+155del	XP_005264573.1:n.1533+151_1533+155del
XM_011533067.2:c.1536+151_1536+155del	XP_011531369.1:n.1536+151_1536+155del
XM_017004778.2:c.1440+151_1440+155del	XP_016860267.1:n.1440+151_1440+155del
NM_001363823.2:c.1533+151_1533+155del	NP_001350752.1:n.1533+151_1533+155del
NM_001363875.2:c.1437+151_1437+155del	NP_001350804.1:n.1437+151_1437+155del
NM_001377959.1:c.1440+151_1440+155del	NP_001364888.1:n.1440+151_1440+155del
NM_014946.4:c.1536+151_1536+155del MANE Select	NP_055761.2:n.1536+151_1536+155del
NM_199436.2:c.1440+151_1440+155del	NP_955468.1:n.1440+151_1440+155del