Canonical Allele Identifier: CA2004892517
Gene: SORL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1441551
ClinVar RCV Id: RCV001979128
dbSNP Id: rs1861639964
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121496917_121496918delinsCA , CM000673.2:g.121496917_121496918delinsCA GRCh38
NC_000011.9:g.121367626_121367627delinsCA , CM000673.1:g.121367626_121367627delinsCA GRCh37
NC_000011.8:g.120872836_120872837delinsCA NCBI36
NG_023313.1:g.49666_49667delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.807_808delinsCA MANE Select ENSP00000260197.6:p.Glu270Lys
ENST00000260197.11:c.807_808delinsCA ENSP00000260197.6:p.Glu270Lys
ENST00000532451.1:n.759_760delinsCA
NM_003105.5:c.807_808delinsCA NP_003096.1:p.Glu270Lys
XM_011542963.1:c.807_808delinsCA XP_011541265.1:p.Glu270Lys
XM_011542964.1:c.807_808delinsCA XP_011541266.1:p.Glu270Lys
XM_011542963.3:c.807_808delinsCA XP_011541265.1:p.Glu270Lys
XM_017018169.2:c.495_496delinsCA XP_016873658.1:p.Glu166Lys
XM_017018170.2:c.282_283delinsCA XP_016873659.1:p.Glu95Lys
XM_017018171.1:c.807_808delinsCA XP_016873660.1:p.Glu270Lys
NM_003105.6:c.807_808delinsCA MANE Select NP_003096.2:p.Glu270Lys
Search 100 bp 5'
Search 100 bp 3'