Canonical Allele Identifier: CA1600438

Gene: SPAST

Linked Data

• dbSNP Id: rs757724414
• ExAC: 2:32288850 CGTCG / C
• MyVariant Identifiers: chr2:g.32288851_32288854del (hg19) ; chr2:g.32063782_32063785del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32063785_32063788del , CM000664.2:g.32063785_32063788del	GRCh38
NC_000002.11:g.32288854_32288857del , CM000664.1:g.32288854_32288857del	GRCh37
NC_000002.10:g.32142358_32142361del	NCBI36
NG_008730.1:g.5175_5178del , LRG_714:g.5175_5178del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.-47_-44del	ENSP00000515816.1:n.-47_-44del
ENST00000315285.9:c.-47_-44del MANE Select	ENSP00000320885.3:n.-47_-44del
ENST00000621856.2:c.-47_-44del	ENSP00000482496.2:n.-47_-44del
ENST00000646571.1:c.-47_-44del	ENSP00000495015.1:n.-47_-44del
ENST00000315285.7:c.-47_-44del	ENSP00000320885.3:n.-47_-44del
ENST00000345662.5:c.-47_-44del	ENSP00000340817.1:n.-47_-44del
ENST00000615843.4:c.-47_-44del	ENSP00000480893.1:n.-47_-44del
NM_014946.3:c.-47_-44del , LRG_714t1:c.-47_-44del	NP_055761.2:n.-47_-44del
NM_199436.1:c.-47_-44del	NP_955468.1:n.-47_-44del
XM_005264516.3:c.-47_-44del	XP_005264573.1:n.-47_-44del
XM_011533067.1:c.-47_-44del	XP_011531369.1:n.-47_-44del
NM_001363823.1:c.-47_-44del	NP_001350752.1:n.-47_-44del
NM_001363875.1:c.-47_-44del	NP_001350804.1:n.-47_-44del
XM_011533067.2:c.-47_-44del	XP_011531369.1:n.-47_-44del
XM_017004778.2:c.-47_-44del	XP_016860267.1:n.-47_-44del
NM_001363823.2:c.-47_-44del	NP_001350752.1:n.-47_-44del
NM_001363875.2:c.-47_-44del	NP_001350804.1:n.-47_-44del
NM_001377959.1:c.-47_-44del	NP_001364888.1:n.-47_-44del
NM_014946.4:c.-47_-44del MANE Select	NP_055761.2:n.-47_-44del
NM_199436.2:c.-47_-44del	NP_955468.1:n.-47_-44del