Canonical Allele Identifier: CA7534383

Gene: SPG11

Linked Data

• dbSNP Id: rs774838408
• ExAC: 15:44876275 T / TTC
• gnomAD v2: 15-44876275-T-TTC
• gnomAD v3: 15-44584077-T-TTC
• gnomAD v4: 15-44584077-T-TTC
• MyVariant Identifiers: chr15:g.44876275_44876276insTC (hg19) ; chr15:g.44584077_44584078insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44584080_44584081dup , CM000677.2:g.44584080_44584081dup	GRCh38
NC_000015.9:g.44876278_44876279dup , CM000677.1:g.44876278_44876279dup	GRCh37
NC_000015.8:g.42663570_42663571dup	NCBI36
NG_008885.1:g.84600_84601dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.5601_5602dup	ENSP00000453246.2:p.Asn1868ArgfsTer12
ENST00000561391.2:n.1829_1830dup
ENST00000682065.1:c.5457_5458dup	ENSP00000507025.1:p.Asn1820ArgfsTer12
ENST00000682460.1:c.*1858_*1859dup	ENSP00000508334.1:n.*1858_*1859dup
ENST00000682495.1:c.*2093_*2094dup	ENSP00000507166.1:n.*2093_*2094dup
ENST00000682669.1:c.5400_5401dup	ENSP00000507782.1:p.Asn1801ArgfsTer12
ENST00000683186.1:c.*2364_*2365dup	ENSP00000507268.1:n.*2364_*2365dup
ENST00000683496.1:c.5601_5602dup	ENSP00000506968.1:p.Asn1868ArgfsTer12
ENST00000683734.1:c.5601_5602dup	ENSP00000508319.1:p.Asn1868ArgfsTer12
ENST00000683753.1:n.4647_4648dup
ENST00000684038.1:c.*2021_*2022dup	ENSP00000507141.1:n.*2021_*2022dup
ENST00000684235.1:c.5601_5602dup	ENSP00000508295.1:p.Asn1868ArgfsTer12
ENST00000684676.1:c.5515+86_5515+87dup	ENSP00000506948.1:n.5515+86_5515+87dup
ENST00000261866.12:c.5601_5602dup MANE Select	ENSP00000261866.7:p.Asn1868ArgfsTer12
ENST00000261866.11:c.5601_5602dup	ENSP00000261866.7:p.Asn1868ArgfsTer12
ENST00000427534.6:c.5601_5602dup	ENSP00000396110.2:p.Asn1868ArgfsTer12
ENST00000535302.6:c.5601_5602dup	ENSP00000445278.2:p.Asn1868ArgfsTer12
ENST00000558319.5:c.5601_5602dup	ENSP00000453599.1:p.Asn1868ArgfsTer12
ENST00000559511.5:c.449_450dup
ENST00000559822.1:c.287+86_287+87dup
NM_001160227.1:c.5601_5602dup	NP_001153699.1:p.Asn1868ArgfsTer12
NM_025137.3:c.5601_5602dup	NP_079413.3:p.Asn1868ArgfsTer12
XM_005254695.3:c.5343_5344dup	XP_005254752.1:p.Asn1782ArgfsTer12
XM_006720700.1:c.5457_5458dup	XP_006720763.1:p.Asn1820ArgfsTer12
XM_017022634.1:c.5601_5602dup	XP_016878123.1:p.Asn1868ArgfsTer12
XM_017022636.1:c.2478_2479dup	XP_016878125.1:p.Asn827ArgfsTer12
NM_025137.4:c.5601_5602dup MANE Select	NP_079413.3:p.Asn1868ArgfsTer12
NM_001160227.2:c.5601_5602dup	NP_001153699.1:p.Asn1868ArgfsTer12