Canonical Allele Identifier: CA229864584
Gene: SORL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121522612_121522613insC , CM000673.2:g.121522612_121522613insC GRCh38
NC_000011.9:g.121393321_121393322insC , CM000673.1:g.121393321_121393322insC GRCh37
NC_000011.8:g.120898531_120898532insC NCBI36
NG_023313.1:g.75361_75362insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.1431_1432insC MANE Select ENSP00000260197.6:p.Ala478ArgfsTer?
ENST00000260197.11:c.1431_1432insC ENSP00000260197.6:p.Ala478ArgfsTer?
ENST00000532451.1:n.1383_1384insC
NM_003105.5:c.1431_1432insC NP_003096.1:p.Ala478ArgfsTer?
XM_011542963.1:c.1431_1432insC XP_011541265.1:p.Ala478ArgfsTer?
XM_011542964.1:c.1431_1432insC XP_011541266.1:p.Ala478ArgfsTer?
XM_011542965.1:c.-192_-191insC XP_011541267.1:n.-192_-191insC
XM_011542963.3:c.1431_1432insC XP_011541265.1:p.Ala478ArgfsTer?
XM_011542965.3:c.-192_-191insC XP_011541267.1:n.-192_-191insC
XM_017018169.2:c.1119_1120insC XP_016873658.1:p.Ala374ArgfsTer?
XM_017018170.2:c.906_907insC XP_016873659.1:p.Ala303ArgfsTer?
XM_017018171.1:c.1431_1432insC XP_016873660.1:p.Ala478ArgfsTer?
NM_003105.6:c.1431_1432insC MANE Select NP_003096.2:p.Ala478ArgfsTer?