Canonical Allele Identifier: CA2004910715

Gene: SORL1

Linked Data

• dbSNP Id: rs1862064234

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522989_121522990insAAATAATTATTTTTAATTTCAAGAATAT , CM000673.2:g.121522989_121522990insAAATAATTATTTTTAATTTCAAGAATAT	GRCh38
NC_000011.9:g.121393698_121393699insAAATAATTATTTTTAATTTCAAGAATAT , CM000673.1:g.121393698_121393699insAAATAATTATTTTTAATTTCAAGAATAT	GRCh37
NC_000011.8:g.120898908_120898909insAAATAATTATTTTTAATTTCAAGAATAT	NCBI36
NG_023313.1:g.75738_75739insAAATAATTATTTTTAATTTCAAGAATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1596_1596+1insAAATAATTATTTTTAATTTCAAGAATAT MANE Select	ENSP00000260197.6:n.1596_1596+1insAAATAATTATTTTTAATTTCAAGAATA...
ENST00000260197.11:c.1596_1596+1insAAATAATTATTTTTAATTTCAAGAATAT	ENSP00000260197.6:n.1596_1596+1insAAATAATTATTTTTAATTTCAAGAATA...
ENST00000532451.1:n.1548_1548+1insAAATAATTATTTTTAATTTCAAGAATAT
NM_003105.5:c.1596_1596+1insAAATAATTATTTTTAATTTCAAGAATAT	NP_003096.1:n.1596_1596+1insAAATAATTATTTTTAATTTCAAGAATAT
XM_011542963.1:c.1596_1596+1insAAATAATTATTTTTAATTTCAAGAATAT	XP_011541265.1:n.1596_1596+1insAAATAATTATTTTTAATTTCAAGAATAT
XM_011542964.1:c.1596_1596+1insAAATAATTATTTTTAATTTCAAGAATAT	XP_011541266.1:n.1596_1596+1insAAATAATTATTTTTAATTTCAAGAATAT
XM_011542965.1:c.-27_-27+1insAAATAATTATTTTTAATTTCAAGAATAT	XP_011541267.1:n.-27_-27+1insAAATAATTATTTTTAATTTCAAGAATAT
XM_011542963.3:c.1596_1596+1insAAATAATTATTTTTAATTTCAAGAATAT	XP_011541265.1:n.1596_1596+1insAAATAATTATTTTTAATTTCAAGAATAT
XM_011542965.3:c.-27_-27+1insAAATAATTATTTTTAATTTCAAGAATAT	XP_011541267.1:n.-27_-27+1insAAATAATTATTTTTAATTTCAAGAATAT
XM_017018169.2:c.1284_1284+1insAAATAATTATTTTTAATTTCAAGAATAT	XP_016873658.1:n.1284_1284+1insAAATAATTATTTTTAATTTCAAGAATAT
XM_017018170.2:c.1071_1071+1insAAATAATTATTTTTAATTTCAAGAATAT	XP_016873659.1:n.1071_1071+1insAAATAATTATTTTTAATTTCAAGAATAT
XM_017018171.1:c.1596_1596+1insAAATAATTATTTTTAATTTCAAGAATAT	XP_016873660.1:n.1596_1596+1insAAATAATTATTTTTAATTTCAAGAATAT
NM_003105.6:c.1596_1596+1insAAATAATTATTTTTAATTTCAAGAATAT MANE Select	NP_003096.2:n.1596_1596+1insAAATAATTATTTTTAATTTCAAGAATAT