Canonical Allele Identifier: CA2616497925

Gene: SORL1

Linked Data

• gnomAD v4: 11-121558565-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558569_121558570del , CM000673.2:g.121558569_121558570del	GRCh38
NC_000011.9:g.121429278_121429279del , CM000673.1:g.121429278_121429279del	GRCh37
NC_000011.8:g.120934488_120934489del	NCBI36
NG_023313.1:g.111318_111319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2664-22_2664-21del MANE Select	ENSP00000260197.6:n.2664-22_2664-21del
ENST00000260197.11:c.2664-22_2664-21del	ENSP00000260197.6:n.2664-22_2664-21del
ENST00000524873.1:n.392-22_392-21del
ENST00000529445.1:n.370-22_370-21del
NM_003105.5:c.2664-22_2664-21del	NP_003096.1:n.2664-22_2664-21del
XM_011542963.1:c.2664-22_2664-21del	XP_011541265.1:n.2664-22_2664-21del
XM_011542964.1:c.2664-22_2664-21del	XP_011541266.1:n.2664-22_2664-21del
XM_011542965.1:c.1125-22_1125-21del	XP_011541267.1:n.1125-22_1125-21del
XM_011542966.1:c.24-22_24-21del	XP_011541268.1:n.24-22_24-21del
XM_011542963.3:c.2664-22_2664-21del	XP_011541265.1:n.2664-22_2664-21del
XM_011542965.3:c.1125-22_1125-21del	XP_011541267.1:n.1125-22_1125-21del
XM_017018169.2:c.2352-22_2352-21del	XP_016873658.1:n.2352-22_2352-21del
XM_017018170.2:c.2139-22_2139-21del	XP_016873659.1:n.2139-22_2139-21del
XM_017018171.1:c.2664-22_2664-21del	XP_016873660.1:n.2664-22_2664-21del
XM_017018172.2:c.24-22_24-21del	XP_016873661.1:n.24-22_24-21del
NM_003105.6:c.2664-22_2664-21del MANE Select	NP_003096.2:n.2664-22_2664-21del