Canonical Allele Identifier: CA2004910610
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121522832_121522835delinsATAC , CM000673.2:g.121522832_121522835delinsATAC GRCh38
NC_000011.9:g.121393541_121393544delinsATAC , CM000673.1:g.121393541_121393544delinsATAC GRCh37
NC_000011.8:g.120898751_120898754delinsATAC NCBI36
NG_023313.1:g.75581_75584delinsATAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.1523-84_1523-81delinsATAC MANE Select ENSP00000260197.6:n.1523-84_1523-81delinsATAC
ENST00000260197.11:c.1523-84_1523-81delinsATAC ENSP00000260197.6:n.1523-84_1523-81delinsATAC
ENST00000532451.1:n.1475-84_1475-81delinsATAC
NM_003105.5:c.1523-84_1523-81delinsATAC NP_003096.1:n.1523-84_1523-81delinsATAC
XM_011542963.1:c.1523-84_1523-81delinsATAC XP_011541265.1:n.1523-84_1523-81delinsATAC
XM_011542964.1:c.1523-84_1523-81delinsATAC XP_011541266.1:n.1523-84_1523-81delinsATAC
XM_011542965.1:c.-100-84_-100-81delinsATAC XP_011541267.1:n.-100-84_-100-81delinsATAC
XM_011542963.3:c.1523-84_1523-81delinsATAC XP_011541265.1:n.1523-84_1523-81delinsATAC
XM_011542965.3:c.-100-84_-100-81delinsATAC XP_011541267.1:n.-100-84_-100-81delinsATAC
XM_017018169.2:c.1211-84_1211-81delinsATAC XP_016873658.1:n.1211-84_1211-81delinsATAC
XM_017018170.2:c.998-84_998-81delinsATAC XP_016873659.1:n.998-84_998-81delinsATAC
XM_017018171.1:c.1523-84_1523-81delinsATAC XP_016873660.1:n.1523-84_1523-81delinsATAC
NM_003105.6:c.1523-84_1523-81delinsATAC MANE Select NP_003096.2:n.1523-84_1523-81delinsATAC