Canonical Allele Identifier: CA2658527568

Gene: SPAST

Linked Data

• gnomAD v4: 2-32128613-TGAATATCTATCTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128614_32128627del , CM000664.2:g.32128614_32128627del	GRCh38
NC_000002.11:g.32353683_32353696del , CM000664.1:g.32353683_32353696del	GRCh37
NC_000002.10:g.32207187_32207200del	NCBI36
NG_008730.1:g.70004_70017del , LRG_714:g.70004_70017del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*905+135_*905+148del	ENSP00000515816.1:n.*905+135_*905+148del
ENST00000315285.9:c.1245+135_1245+148del MANE Select	ENSP00000320885.3:n.1245+135_1245+148del
ENST00000621856.2:c.1242+135_1242+148del	ENSP00000482496.2:n.1242+135_1242+148del
ENST00000642281.1:c.983-7949_983-7936del
ENST00000642455.1:c.1146+135_1146+148del	ENSP00000493827.1:n.1146+135_1146+148del
ENST00000642751.1:c.1019+135_1019+148del
ENST00000642999.1:c.987+135_987+148del	ENSP00000496589.1:n.987+135_987+148del
ENST00000643327.1:c.404+135_404+148del
ENST00000643334.1:c.825+135_825+148del
ENST00000644408.1:c.1121+135_1121+148del
ENST00000644954.1:c.891+135_891+148del	ENSP00000494312.1:n.891+135_891+148del
ENST00000645159.1:n.1982+135_1982+148del
ENST00000645550.1:n.593_606del
ENST00000645671.1:c.695+135_695+148del
ENST00000645730.1:c.592+135_592+148del
ENST00000646082.1:c.891+135_891+148del
ENST00000646571.1:c.1149+135_1149+148del	ENSP00000495015.1:n.1149+135_1149+148del
ENST00000647007.1:n.937+135_937+148del
ENST00000647133.1:c.745+135_745+148del
ENST00000315285.7:c.1245+135_1245+148del	ENSP00000320885.3:n.1245+135_1245+148del
ENST00000345662.5:c.1149+135_1149+148del	ENSP00000340817.1:n.1149+135_1149+148del
ENST00000615843.4:c.1245+135_1245+148del	ENSP00000480893.1:n.1245+135_1245+148del
ENST00000621856.1:c.987+135_987+148del	ENSP00000482496.1:n.987+135_987+148del
NM_014946.3:c.1245+135_1245+148del , LRG_714t1:c.1245+135_1245+148del	NP_055761.2:n.1245+135_1245+148del
NM_199436.1:c.1149+135_1149+148del	NP_955468.1:n.1149+135_1149+148del
XM_005264516.3:c.1242+135_1242+148del	XP_005264573.1:n.1242+135_1242+148del
XM_011533067.1:c.1245+135_1245+148del	XP_011531369.1:n.1245+135_1245+148del
NM_001363823.1:c.1242+135_1242+148del	NP_001350752.1:n.1242+135_1242+148del
NM_001363875.1:c.1146+135_1146+148del	NP_001350804.1:n.1146+135_1146+148del
XM_005264516.5:c.1242+135_1242+148del	XP_005264573.1:n.1242+135_1242+148del
XM_011533067.2:c.1245+135_1245+148del	XP_011531369.1:n.1245+135_1245+148del
XM_017004778.2:c.1149+135_1149+148del	XP_016860267.1:n.1149+135_1149+148del
NM_001363823.2:c.1242+135_1242+148del	NP_001350752.1:n.1242+135_1242+148del
NM_001363875.2:c.1146+135_1146+148del	NP_001350804.1:n.1146+135_1146+148del
NM_001377959.1:c.1149+135_1149+148del	NP_001364888.1:n.1149+135_1149+148del
NM_014946.4:c.1245+135_1245+148del MANE Select	NP_055761.2:n.1245+135_1245+148del
NM_199436.2:c.1149+135_1149+148del	NP_955468.1:n.1149+135_1149+148del