Canonical Allele Identifier: CA1029008684

Gene: SPAST

Linked Data

• gnomAD v3: 2-32146878-AAAG-A
• gnomAD v4: 2-32146878-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32146879_32146881del , CM000664.2:g.32146879_32146881del	GRCh38
NC_000002.11:g.32371948_32371950del , CM000664.1:g.32371948_32371950del	GRCh37
NC_000002.10:g.32225452_32225454del	NCBI36
NG_008730.1:g.88269_88271del , LRG_714:g.88269_88271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1348-339_*1348-337del	ENSP00000515816.1:n.*1348-339_*1348-337del
ENST00000315285.9:c.1688-339_1688-337del MANE Select	ENSP00000320885.3:n.1688-339_1688-337del
ENST00000621856.2:c.1685-339_1685-337del	ENSP00000482496.2:n.1685-339_1685-337del
ENST00000642281.1:c.1425-339_1425-337del
ENST00000642455.1:c.1589-339_1589-337del	ENSP00000493827.1:n.1589-339_1589-337del
ENST00000642751.1:c.1391-339_1391-337del
ENST00000642999.1:c.1430-339_1430-337del	ENSP00000496589.1:n.1430-339_1430-337del
ENST00000643334.1:c.1268-339_1268-337del
ENST00000644408.1:c.1564-316_1564-314del
ENST00000644954.1:c.1334-339_1334-337del	ENSP00000494312.1:n.1334-339_1334-337del
ENST00000645159.1:n.2425-339_2425-337del
ENST00000645671.1:c.1067-339_1067-337del
ENST00000645730.1:c.867-339_867-337del
ENST00000646082.1:c.1334-339_1334-337del
ENST00000646571.1:c.1592-339_1592-337del	ENSP00000495015.1:n.1592-339_1592-337del
ENST00000647007.1:n.1380-339_1380-337del
ENST00000647133.1:c.1188-339_1188-337del
ENST00000315285.7:c.1688-339_1688-337del	ENSP00000320885.3:n.1688-339_1688-337del
ENST00000345662.5:c.1592-339_1592-337del	ENSP00000340817.1:n.1592-339_1592-337del
ENST00000615843.4:c.1688-339_1688-337del	ENSP00000480893.1:n.1688-339_1688-337del
ENST00000621856.1:c.1430-339_1430-337del	ENSP00000482496.1:n.1430-339_1430-337del
NM_014946.3:c.1688-339_1688-337del , LRG_714t1:c.1688-339_1688-337del	NP_055761.2:n.1688-339_1688-337del
NM_199436.1:c.1592-339_1592-337del	NP_955468.1:n.1592-339_1592-337del
XM_005264516.3:c.1685-339_1685-337del	XP_005264573.1:n.1685-339_1685-337del
XM_011533067.1:c.1617-339_1617-337del	XP_011531369.1:n.1617-339_1617-337del
NM_001363823.1:c.1685-339_1685-337del	NP_001350752.1:n.1685-339_1685-337del
NM_001363875.1:c.1589-339_1589-337del	NP_001350804.1:n.1589-339_1589-337del
XM_005264516.5:c.1685-339_1685-337del	XP_005264573.1:n.1685-339_1685-337del
XM_011533067.2:c.1617-339_1617-337del	XP_011531369.1:n.1617-339_1617-337del
XM_017004778.2:c.1521-339_1521-337del	XP_016860267.1:n.1521-339_1521-337del
NM_001363823.2:c.1685-339_1685-337del	NP_001350752.1:n.1685-339_1685-337del
NM_001363875.2:c.1589-339_1589-337del	NP_001350804.1:n.1589-339_1589-337del
NM_001377959.1:c.1521-339_1521-337del	NP_001364888.1:n.1521-339_1521-337del
NM_014946.4:c.1688-339_1688-337del MANE Select	NP_055761.2:n.1688-339_1688-337del
NM_199436.2:c.1592-339_1592-337del	NP_955468.1:n.1592-339_1592-337del