Canonical Allele Identifier: CA1242507000

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32147273_32147276delinsAATG , CM000664.2:g.32147273_32147276delinsAATG	GRCh38
NC_000002.11:g.32372342_32372345delinsAATG , CM000664.1:g.32372342_32372345delinsAATG	GRCh37
NC_000002.10:g.32225846_32225849delinsAATG	NCBI36
NG_008730.1:g.88663_88666delinsAATG , LRG_714:g.88663_88666delinsAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1388+15_*1388+18delinsAATG	ENSP00000515816.1:n.*1388+15_*1388+18delinsAATG
ENST00000315285.9:c.1728+15_1728+18delinsAATG MANE Select	ENSP00000320885.3:n.1728+15_1728+18delinsAATG
ENST00000621856.2:c.1725+15_1725+18delinsAATG	ENSP00000482496.2:n.1725+15_1725+18delinsAATG
ENST00000642281.1:c.1465+15_1465+18delinsAATG
ENST00000642455.1:c.1629+15_1629+18delinsAATG	ENSP00000493827.1:n.1629+15_1629+18delinsAATG
ENST00000642751.1:c.1431+15_1431+18delinsAATG
ENST00000642999.1:c.1470+15_1470+18delinsAATG	ENSP00000496589.1:n.1470+15_1470+18delinsAATG
ENST00000643334.1:c.1308+15_1308+18delinsAATG
ENST00000644408.1:c.1627+15_1627+18delinsAATG
ENST00000644954.1:c.1374+15_1374+18delinsAATG	ENSP00000494312.1:n.1374+15_1374+18delinsAATG
ENST00000645159.1:n.2465+15_2465+18delinsAATG
ENST00000645671.1:c.1107+15_1107+18delinsAATG
ENST00000645730.1:c.907+15_907+18delinsAATG
ENST00000646082.1:c.1374+15_1374+18delinsAATG
ENST00000646571.1:c.1632+15_1632+18delinsAATG	ENSP00000495015.1:n.1632+15_1632+18delinsAATG
ENST00000647007.1:n.1420+15_1420+18delinsAATG
ENST00000647133.1:c.1228+15_1228+18delinsAATG
ENST00000315285.7:c.1728+15_1728+18delinsAATG	ENSP00000320885.3:n.1728+15_1728+18delinsAATG
ENST00000345662.5:c.1632+15_1632+18delinsAATG	ENSP00000340817.1:n.1632+15_1632+18delinsAATG
ENST00000615843.4:c.1728+15_1728+18delinsAATG	ENSP00000480893.1:n.1728+15_1728+18delinsAATG
ENST00000621856.1:c.1470+15_1470+18delinsAATG	ENSP00000482496.1:n.1470+15_1470+18delinsAATG
NM_014946.3:c.1728+15_1728+18delinsAATG , LRG_714t1:c.1728+15_1728+18delinsAATG	NP_055761.2:n.1728+15_1728+18delinsAATG
NM_199436.1:c.1632+15_1632+18delinsAATG	NP_955468.1:n.1632+15_1632+18delinsAATG
XM_005264516.3:c.1725+15_1725+18delinsAATG	XP_005264573.1:n.1725+15_1725+18delinsAATG
XM_011533067.1:c.*1+15_*1+18delinsAATG	XP_011531369.1:n.*1+15_*1+18delinsAATG
NM_001363823.1:c.1725+15_1725+18delinsAATG	NP_001350752.1:n.1725+15_1725+18delinsAATG
NM_001363875.1:c.1629+15_1629+18delinsAATG	NP_001350804.1:n.1629+15_1629+18delinsAATG
XM_005264516.5:c.1725+15_1725+18delinsAATG	XP_005264573.1:n.1725+15_1725+18delinsAATG
XM_011533067.2:c.*1+15_*1+18delinsAATG	XP_011531369.1:n.*1+15_*1+18delinsAATG
XM_017004778.2:c.*1+15_*1+18delinsAATG	XP_016860267.1:n.*1+15_*1+18delinsAATG
NM_001363823.2:c.1725+15_1725+18delinsAATG	NP_001350752.1:n.1725+15_1725+18delinsAATG
NM_001363875.2:c.1629+15_1629+18delinsAATG	NP_001350804.1:n.1629+15_1629+18delinsAATG
NM_001377959.1:c.*1+15_*1+18delinsAATG	NP_001364888.1:n.*1+15_*1+18delinsAATG
NM_014946.4:c.1728+15_1728+18delinsAATG MANE Select	NP_055761.2:n.1728+15_1728+18delinsAATG
NM_199436.2:c.1632+15_1632+18delinsAATG	NP_955468.1:n.1632+15_1632+18delinsAATG