Canonical Allele Identifier: CA1600553

Gene: SPAST

Linked Data

• dbSNP Id: rs769738677
• ExAC: 2:32289217 CGCCGGT / C
• gnomAD v2: 2-32289217-CGCCGGT-C
• gnomAD v3: 2-32064148-CGCCGGT-C
• gnomAD v4: 2-32064148-CGCCGGT-C
• MyVariant Identifiers: chr2:g.32289218_32289223del (hg19) ; chr2:g.32064149_32064154del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32064154_32064159del , CM000664.2:g.32064154_32064159del	GRCh38
NC_000002.11:g.32289223_32289228del , CM000664.1:g.32289223_32289228del	GRCh37
NC_000002.10:g.32142727_32142732del	NCBI36
NG_008730.1:g.5544_5549del , LRG_714:g.5544_5549del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.323_328del	ENSP00000515816.1:p.Val108_Pro109del
ENST00000315285.9:c.323_328del MANE Select	ENSP00000320885.3:p.Val108_Pro109del
ENST00000621856.2:c.323_328del	ENSP00000482496.2:p.Val108_Pro109del
ENST00000642281.1:c.207_212del
ENST00000642455.1:c.323_328del	ENSP00000493827.1:p.Val108_Pro109del
ENST00000642751.1:c.193_198del
ENST00000642999.1:c.65_70del	ENSP00000496589.1:p.Val22_Pro23del
ENST00000644408.1:c.199_204del
ENST00000644954.1:c.65_70del	ENSP00000494312.1:p.Val22_Pro23del
ENST00000645400.1:c.164_169del	ENSP00000496306.1:p.Val55_Pro56del
ENST00000646082.1:c.157_162del
ENST00000646571.1:c.323_328del	ENSP00000495015.1:p.Val108_Pro109del
ENST00000315285.7:c.323_328del	ENSP00000320885.3:p.Val108_Pro109del
ENST00000345662.5:c.323_328del	ENSP00000340817.1:p.Val108_Pro109del
ENST00000615843.4:c.323_328del	ENSP00000480893.1:p.Val108_Pro109del
ENST00000621856.1:c.65_70del	ENSP00000482496.1:p.Val22_Pro23del
NM_014946.3:c.323_328del , LRG_714t1:c.323_328del	NP_055761.2:p.Val108_Pro109del
NM_199436.1:c.323_328del	NP_955468.1:p.Val108_Pro109del
XM_005264516.3:c.323_328del	XP_005264573.1:p.Val108_Pro109del
XM_011533067.1:c.323_328del	XP_011531369.1:p.Val108_Pro109del
NM_001363823.1:c.323_328del	NP_001350752.1:p.Val108_Pro109del
NM_001363875.1:c.323_328del	NP_001350804.1:p.Val108_Pro109del
XM_005264516.5:c.323_328del	XP_005264573.1:p.Val108_Pro109del
XM_011533067.2:c.323_328del	XP_011531369.1:p.Val108_Pro109del
XM_017004778.2:c.323_328del	XP_016860267.1:p.Val108_Pro109del
NM_001363823.2:c.323_328del	NP_001350752.1:p.Val108_Pro109del
NM_001363875.2:c.323_328del	NP_001350804.1:p.Val108_Pro109del
NM_001377959.1:c.323_328del	NP_001364888.1:p.Val108_Pro109del
NM_014946.4:c.323_328del MANE Select	NP_055761.2:p.Val108_Pro109del
NM_199436.2:c.323_328del	NP_955468.1:p.Val108_Pro109del