Canonical Allele Identifier: CA45201387

Gene: SPAST

Linked Data

• dbSNP Id: rs886800078
• gnomAD v3: 2-32063898-AGGCCTCCGCCCCCTTGCCT-A
• gnomAD v4: 2-32063898-AGGCCTCCGCCCCCTTGCCT-A
• MyVariant Identifiers: chr2:g.32288968_32288986del (hg19) ; chr2:g.32063899_32063917del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32063903_32063921del , CM000664.2:g.32063903_32063921del	GRCh38
NC_000002.11:g.32288972_32288990del , CM000664.1:g.32288972_32288990del	GRCh37
NC_000002.10:g.32142476_32142494del	NCBI36
NG_008730.1:g.5293_5311del , LRG_714:g.5293_5311del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.72_90del	ENSP00000515816.1:p.Pro27LeufsTer27
ENST00000315285.9:c.72_90del MANE Select	ENSP00000320885.3:p.Pro27LeufsTer27
ENST00000621856.2:c.72_90del	ENSP00000482496.2:p.Pro27LeufsTer27
ENST00000642455.1:c.72_90del	ENSP00000493827.1:p.Pro27LeufsTer27
ENST00000646571.1:c.72_90del	ENSP00000495015.1:p.Pro27LeufsTer27
ENST00000315285.7:c.72_90del	ENSP00000320885.3:p.Pro27LeufsTer27
ENST00000345662.5:c.72_90del	ENSP00000340817.1:p.Pro27LeufsTer27
ENST00000615843.4:c.72_90del	ENSP00000480893.1:p.Pro27LeufsTer27
NM_014946.3:c.72_90del , LRG_714t1:c.72_90del	NP_055761.2:p.Pro27LeufsTer27
NM_199436.1:c.72_90del	NP_955468.1:p.Pro27LeufsTer27
XM_005264516.3:c.72_90del	XP_005264573.1:p.Pro27LeufsTer27
XM_011533067.1:c.72_90del	XP_011531369.1:p.Pro27LeufsTer27
NM_001363823.1:c.72_90del	NP_001350752.1:p.Pro27LeufsTer27
NM_001363875.1:c.72_90del	NP_001350804.1:p.Pro27LeufsTer27
XM_005264516.5:c.72_90del	XP_005264573.1:p.Pro27LeufsTer27
XM_011533067.2:c.72_90del	XP_011531369.1:p.Pro27LeufsTer27
XM_017004778.2:c.72_90del	XP_016860267.1:p.Pro27LeufsTer27
NM_001363823.2:c.72_90del	NP_001350752.1:p.Pro27LeufsTer27
NM_001363875.2:c.72_90del	NP_001350804.1:p.Pro27LeufsTer27
NM_001377959.1:c.72_90del	NP_001364888.1:p.Pro27LeufsTer27
NM_014946.4:c.72_90del MANE Select	NP_055761.2:p.Pro27LeufsTer27
NM_199436.2:c.72_90del	NP_955468.1:p.Pro27LeufsTer27