Canonical Allele Identifier: CA617676452

Gene: SPG11

Linked Data

• dbSNP Id: rs751181128
• gnomAD v2: 15-44867068-C-G
• gnomAD v4: 15-44574870-C-G
• MyVariant Identifiers: chr15:g.44867068_44867072delinsGAGAA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44574870C>G , CM000677.2:g.44574870C>G	GRCh38
NC_000015.9:g.44867068C>G , CM000677.1:g.44867068C>G	GRCh37
NC_000015.8:g.42654360C>G	NCBI36
NG_008885.1:g.93809G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559511.6:c.5867-4212G>C	ENSP00000453246.2:n.5867-4212G>C
ENST00000561391.2:n.2234+32G>C
ENST00000682065.1:c.5862+32G>C	ENSP00000507025.1:n.5862+32G>C
ENST00000682460.1:c.*2263+32G>C	ENSP00000508334.1:n.*2263+32G>C
ENST00000682495.1:c.*2498+32G>C	ENSP00000507166.1:n.*2498+32G>C
ENST00000682669.1:c.5805+32G>C	ENSP00000507782.1:n.5805+32G>C
ENST00000683186.1:c.*2769+32G>C	ENSP00000507268.1:n.*2769+32G>C
ENST00000683496.1:c.6006+32G>C	ENSP00000506968.1:n.6006+32G>C
ENST00000683734.1:c.5867-1125G>C	ENSP00000508319.1:n.5867-1125G>C
ENST00000683753.1:n.5052+32G>C
ENST00000684038.1:c.*2426+32G>C	ENSP00000507141.1:n.*2426+32G>C
ENST00000684235.1:c.6006+32G>C	ENSP00000508295.1:n.6006+32G>C
ENST00000684676.1:c.*155+32G>C	ENSP00000506948.1:n.*155+32G>C
ENST00000261866.12:c.6006+32G>C MANE Select	ENSP00000261866.7:n.6006+32G>C
ENST00000261866.11:c.6006+32G>C	ENSP00000261866.7:n.6006+32G>C
ENST00000427534.6:c.6006+32G>C	ENSP00000396110.2:n.6006+32G>C
ENST00000535302.6:c.5867-2050G>C	ENSP00000445278.2:n.5867-2050G>C
ENST00000558080.1:n.371+32G>C
ENST00000558319.5:c.6006+32G>C	ENSP00000453599.1:n.6006+32G>C
ENST00000559511.5:c.715-4212G>C
ENST00000559822.1:c.549+32G>C
NM_001160227.1:c.5867-2050G>C	NP_001153699.1:n.5867-2050G>C
NM_025137.3:c.6006+32G>C	NP_079413.3:n.6006+32G>C
XM_005254695.3:c.5748+32G>C	XP_005254752.1:n.5748+32G>C
XM_006720700.1:c.5862+32G>C	XP_006720763.1:n.5862+32G>C
XM_017022634.1:c.6006+32G>C	XP_016878123.1:n.6006+32G>C
XM_017022636.1:c.2883+32G>C	XP_016878125.1:n.2883+32G>C
NM_025137.4:c.6006+32G>C MANE Select	NP_079413.3:n.6006+32G>C
NM_001160227.2:c.5867-2050G>C	NP_001153699.1:n.5867-2050G>C