Canonical Allele Identifier: CA767797061

Gene: SPAST

Linked Data

• dbSNP Id: rs1316901965
• gnomAD v3: 2-32063820-TGA-T
• gnomAD v4: 2-32063820-TGA-T
• MyVariant Identifiers: chr2:g.32288890_32288891del (hg19) ; chr2:g.32063821_32063822del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32063824_32063825del , CM000664.2:g.32063824_32063825del	GRCh38
NC_000002.11:g.32288893_32288894del , CM000664.1:g.32288893_32288894del	GRCh37
NC_000002.10:g.32142397_32142398del	NCBI36
NG_008730.1:g.5214_5215del , LRG_714:g.5214_5215del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.-8_-7del	ENSP00000515816.1:n.-8_-7del
ENST00000315285.9:c.-8_-7del MANE Select	ENSP00000320885.3:n.-8_-7del
ENST00000621856.2:c.-8_-7del	ENSP00000482496.2:n.-8_-7del
ENST00000646571.1:c.-8_-7del	ENSP00000495015.1:n.-8_-7del
ENST00000315285.7:c.-8_-7del	ENSP00000320885.3:n.-8_-7del
ENST00000345662.5:c.-8_-7del	ENSP00000340817.1:n.-8_-7del
ENST00000615843.4:c.-8_-7del	ENSP00000480893.1:n.-8_-7del
NM_014946.3:c.-8_-7del , LRG_714t1:c.-8_-7del	NP_055761.2:n.-8_-7del
NM_199436.1:c.-8_-7del	NP_955468.1:n.-8_-7del
XM_005264516.3:c.-8_-7del	XP_005264573.1:n.-8_-7del
XM_011533067.1:c.-8_-7del	XP_011531369.1:n.-8_-7del
NM_001363823.1:c.-8_-7del	NP_001350752.1:n.-8_-7del
NM_001363875.1:c.-8_-7del	NP_001350804.1:n.-8_-7del
XM_011533067.2:c.-8_-7del	XP_011531369.1:n.-8_-7del
XM_017004778.2:c.-8_-7del	XP_016860267.1:n.-8_-7del
NM_001363823.2:c.-8_-7del	NP_001350752.1:n.-8_-7del
NM_001363875.2:c.-8_-7del	NP_001350804.1:n.-8_-7del
NM_001377959.1:c.-8_-7del	NP_001364888.1:n.-8_-7del
NM_014946.4:c.-8_-7del MANE Select	NP_055761.2:n.-8_-7del
NM_199436.2:c.-8_-7del	NP_955468.1:n.-8_-7del