Canonical Allele Identifier: CA229967959
Gene: SORL1 HGNC NCBI

Linked Data

dbSNP Id: rs757056500
MyVariant Identifiers: chr11:g.121356917del (hg19) chr11:g.121486208del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121486210del , CM000673.2:g.121486210del GRCh38
NC_000011.9:g.121356919del , CM000673.1:g.121356919del GRCh37
NC_000011.8:g.120862129del NCBI36
NG_023313.1:g.38959del

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.529-1822del MANE Select ENSP00000260197.6:n.529-1822del
ENST00000260197.11:c.529-1822del ENSP00000260197.6:n.529-1822del
ENST00000532451.1:n.481-1822del
NM_003105.5:c.529-1822del NP_003096.1:n.529-1822del
XM_011542963.1:c.529-1822del XP_011541265.1:n.529-1822del
XM_011542964.1:c.529-1822del XP_011541266.1:n.529-1822del
XM_011542963.3:c.529-1822del XP_011541265.1:n.529-1822del
XM_017018169.2:c.217-1822del XP_016873658.1:n.217-1822del
XM_017018171.1:c.529-1822del XP_016873660.1:n.529-1822del
NM_003105.6:c.529-1822del MANE Select NP_003096.2:n.529-1822del
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