Canonical Allele Identifier: CA2740092819

Gene: SPAST

Linked Data

• ClinVar Variation Id: 3010987
• ClinVar RCV Id: RCV003869650

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32063951_32063952delinsAA , CM000664.2:g.32063951_32063952delinsAA	GRCh38
NC_000002.11:g.32289020_32289021delinsAA , CM000664.1:g.32289020_32289021delinsAA	GRCh37
NC_000002.10:g.32142524_32142525delinsAA	NCBI36
NG_008730.1:g.5341_5342delinsAA , LRG_714:g.5341_5342delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.120_121delinsAA	ENSP00000515816.1:p.Pro41Thr
ENST00000315285.9:c.120_121delinsAA MANE Select	ENSP00000320885.3:p.Pro41Thr
ENST00000621856.2:c.120_121delinsAA	ENSP00000482496.2:p.Pro41Thr
ENST00000642281.1:c.4_5delinsAA
ENST00000642455.1:c.120_121delinsAA	ENSP00000493827.1:p.Pro41Thr
ENST00000646571.1:c.120_121delinsAA	ENSP00000495015.1:p.Pro41Thr
ENST00000315285.7:c.120_121delinsAA	ENSP00000320885.3:p.Pro41Thr
ENST00000345662.5:c.120_121delinsAA	ENSP00000340817.1:p.Pro41Thr
ENST00000615843.4:c.120_121delinsAA	ENSP00000480893.1:p.Pro41Thr
NM_014946.3:c.120_121delinsAA , LRG_714t1:c.120_121delinsAA	NP_055761.2:p.Pro41Thr
NM_199436.1:c.120_121delinsAA	NP_955468.1:p.Pro41Thr
XM_005264516.3:c.120_121delinsAA	XP_005264573.1:p.Pro41Thr
XM_011533067.1:c.120_121delinsAA	XP_011531369.1:p.Pro41Thr
NM_001363823.1:c.120_121delinsAA	NP_001350752.1:p.Pro41Thr
NM_001363875.1:c.120_121delinsAA	NP_001350804.1:p.Pro41Thr
XM_005264516.5:c.120_121delinsAA	XP_005264573.1:p.Pro41Thr
XM_011533067.2:c.120_121delinsAA	XP_011531369.1:p.Pro41Thr
XM_017004778.2:c.120_121delinsAA	XP_016860267.1:p.Pro41Thr
NM_001363823.2:c.120_121delinsAA	NP_001350752.1:p.Pro41Thr
NM_001363875.2:c.120_121delinsAA	NP_001350804.1:p.Pro41Thr
NM_001377959.1:c.120_121delinsAA	NP_001364888.1:p.Pro41Thr
NM_014946.4:c.120_121delinsAA MANE Select	NP_055761.2:p.Pro41Thr
NM_199436.2:c.120_121delinsAA	NP_955468.1:p.Pro41Thr