Canonical Allele Identifier: CA531746185

Gene: SPAST

Linked Data

• dbSNP Id: rs1195993407
• gnomAD v2: 2-32288874-T-TGGC
• gnomAD v3: 2-32063805-T-TGGC
• gnomAD v4: 2-32063805-T-TGGC
• MyVariant Identifiers: chr2:g.32288877_32288878insGGC (hg19) ; chr2:g.32288874_32288875insGGC (hg19) ; chr2:g.32063808_32063809insGGC (hg38) ; chr2:g.32063805_32063806insGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32063815_32063817dup , CM000664.2:g.32063815_32063817dup	GRCh38
NC_000002.11:g.32288884_32288886dup , CM000664.1:g.32288884_32288886dup	GRCh37
NC_000002.10:g.32142388_32142390dup	NCBI36
NG_008730.1:g.5205_5207dup , LRG_714:g.5205_5207dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.-17_-15dup	ENSP00000515816.1:n.-17_-15dup
ENST00000315285.9:c.-17_-15dup MANE Select	ENSP00000320885.3:n.-17_-15dup
ENST00000621856.2:c.-17_-15dup	ENSP00000482496.2:n.-17_-15dup
ENST00000646571.1:c.-17_-15dup	ENSP00000495015.1:n.-17_-15dup
ENST00000315285.7:c.-17_-15dup	ENSP00000320885.3:n.-17_-15dup
ENST00000345662.5:c.-17_-15dup	ENSP00000340817.1:n.-17_-15dup
ENST00000615843.4:c.-17_-15dup	ENSP00000480893.1:n.-17_-15dup
NM_014946.3:c.-17_-15dup , LRG_714t1:c.-17_-15dup	NP_055761.2:n.-17_-15dup
NM_199436.1:c.-17_-15dup	NP_955468.1:n.-17_-15dup
XM_005264516.3:c.-17_-15dup	XP_005264573.1:n.-17_-15dup
XM_011533067.1:c.-17_-15dup	XP_011531369.1:n.-17_-15dup
NM_001363823.1:c.-17_-15dup	NP_001350752.1:n.-17_-15dup
NM_001363875.1:c.-17_-15dup	NP_001350804.1:n.-17_-15dup
XM_011533067.2:c.-17_-15dup	XP_011531369.1:n.-17_-15dup
XM_017004778.2:c.-17_-15dup	XP_016860267.1:n.-17_-15dup
NM_001363823.2:c.-17_-15dup	NP_001350752.1:n.-17_-15dup
NM_001363875.2:c.-17_-15dup	NP_001350804.1:n.-17_-15dup
NM_001377959.1:c.-17_-15dup	NP_001364888.1:n.-17_-15dup
NM_014946.4:c.-17_-15dup MANE Select	NP_055761.2:n.-17_-15dup
NM_199436.2:c.-17_-15dup	NP_955468.1:n.-17_-15dup