Canonical Allele Identifier: CA658657023

Gene: SPAST

Linked Data

• ClinVar Variation Id: 468562
• ClinVar RCV Id: RCV001008119 ; RCV000548535
• dbSNP Id: rs1553317032
• gnomAD v4: 2-32128445-TTAATA-T
• MyVariant Identifiers: chr2:g.32353518_32353522del (hg19) ; chr2:g.32128449_32128453del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128449_32128453del , CM000664.2:g.32128449_32128453del	GRCh38
NC_000002.11:g.32353518_32353522del , CM000664.1:g.32353518_32353522del	GRCh37
NC_000002.10:g.32207022_32207026del	NCBI36
NG_008730.1:g.69839_69843del , LRG_714:g.69839_69843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*875_*879del	ENSP00000515816.1:n.*875_*879del
ENST00000315285.9:c.1215_1219del MANE Select	ENSP00000320885.3:p.Asn405LysfsTer?
ENST00000621856.2:c.1212_1216del	ENSP00000482496.2:p.Asn404LysfsTer?
ENST00000642281.1:c.983-8114_983-8110del
ENST00000642455.1:c.1116_1120del	ENSP00000493827.1:p.Asn372LysfsTer?
ENST00000642751.1:c.989_993del
ENST00000642999.1:c.957_961del	ENSP00000496589.1:p.Asn319LysfsTer?
ENST00000643327.1:c.374_378del
ENST00000643334.1:c.795_799del
ENST00000644408.1:c.1091_1095del
ENST00000644954.1:c.861_865del	ENSP00000494312.1:p.Asn287LysfsTer?
ENST00000645159.1:n.1952_1956del
ENST00000645550.1:n.428_432del
ENST00000645671.1:c.665_669del
ENST00000645730.1:c.562_566del
ENST00000646082.1:c.861_865del
ENST00000646571.1:c.1119_1123del	ENSP00000495015.1:p.Asn373LysfsTer?
ENST00000647007.1:n.907_911del
ENST00000647133.1:c.715_719del
ENST00000315285.7:c.1215_1219del	ENSP00000320885.3:p.Asn405LysfsTer?
ENST00000345662.5:c.1119_1123del	ENSP00000340817.1:p.Asn373LysfsTer?
ENST00000615843.4:c.1215_1219del	ENSP00000480893.1:p.Asn405LysfsTer?
ENST00000621856.1:c.957_961del	ENSP00000482496.1:p.Asn319LysfsTer?
NM_014946.3:c.1215_1219del , LRG_714t1:c.1215_1219del	NP_055761.2:p.Asn405LysfsTer?
NM_199436.1:c.1119_1123del	NP_955468.1:p.Asn373LysfsTer?
XM_005264516.3:c.1212_1216del	XP_005264573.1:p.Asn404LysfsTer?
XM_011533067.1:c.1215_1219del	XP_011531369.1:p.Asn405LysfsTer?
NM_001363823.1:c.1212_1216del	NP_001350752.1:p.Asn404LysfsTer?
NM_001363875.1:c.1116_1120del	NP_001350804.1:p.Asn372LysfsTer?
XM_005264516.5:c.1212_1216del	XP_005264573.1:p.Asn404LysfsTer?
XM_011533067.2:c.1215_1219del	XP_011531369.1:p.Asn405LysfsTer?
XM_017004778.2:c.1119_1123del	XP_016860267.1:p.Asn373LysfsTer?
NM_001363823.2:c.1212_1216del	NP_001350752.1:p.Asn404LysfsTer?
NM_001363875.2:c.1116_1120del	NP_001350804.1:p.Asn372LysfsTer?
NM_001377959.1:c.1119_1123del	NP_001364888.1:p.Asn373LysfsTer?
NM_014946.4:c.1215_1219del MANE Select	NP_055761.2:p.Asn405LysfsTer?
NM_199436.2:c.1119_1123del	NP_955468.1:p.Asn373LysfsTer?