Canonical Allele Identifier: CA2616500473

Gene: SORL1

Linked Data

• gnomAD v4: 11-121577376-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121577378del , CM000673.2:g.121577378del	GRCh38
NC_000011.9:g.121448087del , CM000673.1:g.121448087del	GRCh37
NC_000011.8:g.120953297del	NCBI36
NG_023313.1:g.130127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.3558del MANE Select	ENSP00000260197.6:p.Trp1186CysfsTer?
ENST00000260197.11:c.3558del	ENSP00000260197.6:p.Trp1186CysfsTer?
ENST00000525532.5:c.390del	ENSP00000434634.1:p.Trp130CysfsTer?
ENST00000532694.5:c.96del	ENSP00000432131.1:p.Trp32CysfsTer?
ENST00000534286.5:c.288del	ENSP00000436447.1:p.Trp96CysfsTer?
NM_003105.5:c.3558del	NP_003096.1:p.Trp1186CysfsTer?
XM_011542963.1:c.3444del	XP_011541265.1:p.Trp1148CysfsTer?
XM_011542964.1:c.3558del	XP_011541266.1:p.Trp1186CysfsTer?
XM_011542965.1:c.2019del	XP_011541267.1:p.Trp673CysfsTer?
XM_011542966.1:c.918del	XP_011541268.1:p.Trp306CysfsTer?
XM_011542967.1:c.390del	XP_011541269.1:p.Trp130CysfsTer?
XM_011542963.3:c.3444del	XP_011541265.1:p.Trp1148CysfsTer?
XM_011542965.3:c.2019del	XP_011541267.1:p.Trp673CysfsTer?
XM_011542967.3:c.390del	XP_011541269.1:p.Trp130CysfsTer?
XM_017018169.2:c.3246del	XP_016873658.1:p.Trp1082CysfsTer?
XM_017018170.2:c.3033del	XP_016873659.1:p.Trp1011CysfsTer?
XM_017018171.1:c.3558del	XP_016873660.1:p.Trp1186CysfsTer?
XM_017018172.2:c.918del	XP_016873661.1:p.Trp306CysfsTer?
NM_003105.6:c.3558del MANE Select	NP_003096.2:p.Trp1186CysfsTer?