Canonical Allele Identifier: CA618006120

Gene: SPG11

Linked Data

• dbSNP Id: rs1555459952
• gnomAD v2: 15-44943673-TACAAGACAGTCTCACCTGTCAAA-T
• gnomAD v3: 15-44651475-TACAAGACAGTCTCACCTGTCAAA-T
• gnomAD v4: 15-44651475-TACAAGACAGTCTCACCTGTCAAA-T
• MyVariant Identifiers: chr15:g.44943674_44943696del (hg19) ; chr15:g.44651476_44651498del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44651480_44651502del , CM000677.2:g.44651480_44651502del	GRCh38
NC_000015.9:g.44943678_44943700del , CM000677.1:g.44943678_44943700del	GRCh37
NC_000015.8:g.42730970_42730992del	NCBI36
NG_008885.1:g.17181_17203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559511.6:c.1449_1456+15del
ENST00000682065.1:c.1449_1456+15del
ENST00000682410.1:n.1478_1485+15del
ENST00000682460.1:c.1449_1456+15del
ENST00000682495.1:c.1449_1456+15del
ENST00000682648.1:n.1394_1401+15del
ENST00000682669.1:c.1449_1456+15del
ENST00000682788.1:c.1449_1456+15del
ENST00000682877.1:n.1480_1487+15del
ENST00000682915.1:c.1449_1456+15del
ENST00000683121.1:c.1449_1456+15del
ENST00000683186.1:c.1449_1456+15del
ENST00000683255.1:c.1449_1456+15del
ENST00000683496.1:c.1449_1456+15del
ENST00000683573.1:c.1449_1456+15del
ENST00000683734.1:c.1449_1456+15del
ENST00000683753.1:n.573_580+15del
ENST00000684038.1:c.1191_1198+15del
ENST00000684235.1:c.1449_1456+15del
ENST00000684490.1:n.1464_1471+15del
ENST00000684676.1:c.1449_1456+15del
ENST00000261866.12:c.1449_1456+15del
ENST00000261866.11:c.1449_1456+15del
ENST00000427534.6:c.1449_1456+15del
ENST00000535302.6:c.1449_1456+15del
ENST00000557866.1:c.147_154+15del
ENST00000558319.5:c.1449_1456+15del
ENST00000559193.5:c.1449_1456+15del
NM_001160227.1:c.1449_1456+15del
NM_025137.3:c.1449_1456+15del
XM_005254695.3:c.1191_1198+15del
XM_006720700.1:c.1449_1456+15del
XM_006720701.2:c.1449_1456+15del
XM_011522093.1:c.1449_1456+15del
XR_931917.1:n.1480_1487+15del
XM_006720701.3:c.1449_1456+15del
XM_017022634.1:c.1449_1456+15del
XM_017022635.2:c.1449_1456+15del
XR_001751402.1:n.1480_1487+15del
XR_931917.2:n.1480_1487+15del
NM_025137.4:c.1449_1456+15del
NM_001160227.2:c.1449_1456+15del