Canonical Allele Identifier: CA2699033270
Gene: SPAST HGNC NCBI

Linked Data

dbSNP Id: rs2148685281

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32063920_32063921insGGGG , CM000664.2:g.32063920_32063921insGGGG GRCh38
NC_000002.11:g.32288989_32288990insGGGG , CM000664.1:g.32288989_32288990insGGGG GRCh37
NC_000002.10:g.32142493_32142494insGGGG NCBI36
NG_008730.1:g.5310_5311insGGGG , LRG_714:g.5310_5311insGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.89_90insGGGG ENSP00000515816.1:p.Pro31GlyfsTer18
ENST00000315285.9:c.89_90insGGGG MANE Select ENSP00000320885.3:p.Pro31GlyfsTer18
ENST00000621856.2:c.89_90insGGGG ENSP00000482496.2:p.Pro31GlyfsTer18
ENST00000642455.1:c.89_90insGGGG ENSP00000493827.1:p.Pro31GlyfsTer18
ENST00000646571.1:c.89_90insGGGG ENSP00000495015.1:p.Pro31GlyfsTer18
ENST00000315285.7:c.89_90insGGGG ENSP00000320885.3:p.Pro31GlyfsTer18
ENST00000345662.5:c.89_90insGGGG ENSP00000340817.1:p.Pro31GlyfsTer18
ENST00000615843.4:c.89_90insGGGG ENSP00000480893.1:p.Pro31GlyfsTer18
NM_014946.3:c.89_90insGGGG , LRG_714t1:c.89_90insGGGG NP_055761.2:p.Pro31GlyfsTer18
NM_199436.1:c.89_90insGGGG NP_955468.1:p.Pro31GlyfsTer18
XM_005264516.3:c.89_90insGGGG XP_005264573.1:p.Pro31GlyfsTer18
XM_011533067.1:c.89_90insGGGG XP_011531369.1:p.Pro31GlyfsTer18
NM_001363823.1:c.89_90insGGGG NP_001350752.1:p.Pro31GlyfsTer18
NM_001363875.1:c.89_90insGGGG NP_001350804.1:p.Pro31GlyfsTer18
XM_005264516.5:c.89_90insGGGG XP_005264573.1:p.Pro31GlyfsTer18
XM_011533067.2:c.89_90insGGGG XP_011531369.1:p.Pro31GlyfsTer18
XM_017004778.2:c.89_90insGGGG XP_016860267.1:p.Pro31GlyfsTer18
NM_001363823.2:c.89_90insGGGG NP_001350752.1:p.Pro31GlyfsTer18
NM_001363875.2:c.89_90insGGGG NP_001350804.1:p.Pro31GlyfsTer18
NM_001377959.1:c.89_90insGGGG NP_001364888.1:p.Pro31GlyfsTer18
NM_014946.4:c.89_90insGGGG MANE Select NP_055761.2:p.Pro31GlyfsTer18
NM_199436.2:c.89_90insGGGG NP_955468.1:p.Pro31GlyfsTer18