Canonical Allele Identifier: CA2616495806
Gene: SORL1 HGNC NCBI

Linked Data

gnomAD v4: 11-121490205-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121490207del , CM000673.2:g.121490207del GRCh38
NC_000011.9:g.121360916del , CM000673.1:g.121360916del GRCh37
NC_000011.8:g.120866126del NCBI36
NG_023313.1:g.42956del

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.758+97del MANE Select ENSP00000260197.6:n.758+97del
ENST00000260197.11:c.758+97del ENSP00000260197.6:n.758+97del
ENST00000532451.1:n.710+97del
NM_003105.5:c.758+97del NP_003096.1:n.758+97del
XM_011542963.1:c.758+97del XP_011541265.1:n.758+97del
XM_011542964.1:c.758+97del XP_011541266.1:n.758+97del
XM_011542963.3:c.758+97del XP_011541265.1:n.758+97del
XM_017018169.2:c.446+97del XP_016873658.1:n.446+97del
XM_017018170.2:c.233+97del XP_016873659.1:n.233+97del
XM_017018171.1:c.758+97del XP_016873660.1:n.758+97del
NM_003105.6:c.758+97del MANE Select NP_003096.2:n.758+97del
Search 100 bp 5'
Search 100 bp 3'