Canonical Allele Identifier: CA531501978

Gene: SPAST

Linked Data

• dbSNP Id: rs1243881646
• gnomAD v2: 2-32362309-CAT-C
• gnomAD v4: 2-32137240-CAT-C
• MyVariant Identifiers: chr2:g.32362310_32362311del (hg19) ; chr2:g.32137241_32137242del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32137241_32137242del , CM000664.2:g.32137241_32137242del	GRCh38
NC_000002.11:g.32362310_32362311del , CM000664.1:g.32362310_32362311del	GRCh37
NC_000002.10:g.32215814_32215815del	NCBI36
NG_008730.1:g.78631_78632del , LRG_714:g.78631_78632del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1153+53_*1153+54del	ENSP00000515816.1:n.*1153+53_*1153+54del
ENST00000315285.9:c.1493+53_1493+54del MANE Select	ENSP00000320885.3:n.1493+53_1493+54del
ENST00000621856.2:c.1490+53_1490+54del	ENSP00000482496.2:n.1490+53_1490+54del
ENST00000642281.1:c.1230+53_1230+54del
ENST00000642455.1:c.1394+53_1394+54del	ENSP00000493827.1:n.1394+53_1394+54del
ENST00000642751.1:c.1267+53_1267+54del
ENST00000642999.1:c.1235+53_1235+54del	ENSP00000496589.1:n.1235+53_1235+54del
ENST00000643327.1:c.560+53_560+54del
ENST00000643334.1:c.1073+53_1073+54del
ENST00000644408.1:c.1369+53_1369+54del
ENST00000644954.1:c.1139+53_1139+54del	ENSP00000494312.1:n.1139+53_1139+54del
ENST00000645159.1:n.2230+53_2230+54del
ENST00000645671.1:c.943+53_943+54del
ENST00000645730.1:c.672+53_672+54del
ENST00000646082.1:c.1139+53_1139+54del
ENST00000646571.1:c.1397+53_1397+54del	ENSP00000495015.1:n.1397+53_1397+54del
ENST00000647007.1:n.1185+53_1185+54del
ENST00000647133.1:c.993+53_993+54del
ENST00000315285.7:c.1493+53_1493+54del	ENSP00000320885.3:n.1493+53_1493+54del
ENST00000345662.5:c.1397+53_1397+54del	ENSP00000340817.1:n.1397+53_1397+54del
ENST00000615843.4:c.1493+53_1493+54del	ENSP00000480893.1:n.1493+53_1493+54del
ENST00000621856.1:c.1235+53_1235+54del	ENSP00000482496.1:n.1235+53_1235+54del
NM_014946.3:c.1493+53_1493+54del , LRG_714t1:c.1493+53_1493+54del	NP_055761.2:n.1493+53_1493+54del
NM_199436.1:c.1397+53_1397+54del	NP_955468.1:n.1397+53_1397+54del
XM_005264516.3:c.1490+53_1490+54del	XP_005264573.1:n.1490+53_1490+54del
XM_011533067.1:c.1493+53_1493+54del	XP_011531369.1:n.1493+53_1493+54del
NM_001363823.1:c.1490+53_1490+54del	NP_001350752.1:n.1490+53_1490+54del
NM_001363875.1:c.1394+53_1394+54del	NP_001350804.1:n.1394+53_1394+54del
XM_005264516.5:c.1490+53_1490+54del	XP_005264573.1:n.1490+53_1490+54del
XM_011533067.2:c.1493+53_1493+54del	XP_011531369.1:n.1493+53_1493+54del
XM_017004778.2:c.1397+53_1397+54del	XP_016860267.1:n.1397+53_1397+54del
NM_001363823.2:c.1490+53_1490+54del	NP_001350752.1:n.1490+53_1490+54del
NM_001363875.2:c.1394+53_1394+54del	NP_001350804.1:n.1394+53_1394+54del
NM_001377959.1:c.1397+53_1397+54del	NP_001364888.1:n.1397+53_1397+54del
NM_014946.4:c.1493+53_1493+54del MANE Select	NP_055761.2:n.1493+53_1493+54del
NM_199436.2:c.1397+53_1397+54del	NP_955468.1:n.1397+53_1397+54del