Canonical Allele Identifier: CA229902729

Gene: SORL1

Linked Data

• dbSNP Id: rs34709916
• gnomAD v4: 11-121558627-TG-T
• MyVariant Identifiers: chr11:g.121429337del (hg19) ; chr11:g.121558628del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558630del , CM000673.2:g.121558630del	GRCh38
NC_000011.9:g.121429339del , CM000673.1:g.121429339del	GRCh37
NC_000011.8:g.120934549del	NCBI36
NG_023313.1:g.111379del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2703del MANE Select	ENSP00000260197.6:p.Ile902PhefsTer19
ENST00000260197.11:c.2703del	ENSP00000260197.6:p.Ile902PhefsTer19
ENST00000524873.1:n.431del
ENST00000529445.1:n.409del
NM_003105.5:c.2703del	NP_003096.1:p.Ile902PhefsTer19
XM_011542963.1:c.2703del	XP_011541265.1:p.Ile902PhefsTer19
XM_011542964.1:c.2703del	XP_011541266.1:p.Ile902PhefsTer19
XM_011542965.1:c.1164del	XP_011541267.1:p.Ile389PhefsTer19
XM_011542966.1:c.63del	XP_011541268.1:p.Ile22PhefsTer19
XM_011542963.3:c.2703del	XP_011541265.1:p.Ile902PhefsTer19
XM_011542965.3:c.1164del	XP_011541267.1:p.Ile389PhefsTer19
XM_017018169.2:c.2391del	XP_016873658.1:p.Ile798PhefsTer19
XM_017018170.2:c.2178del	XP_016873659.1:p.Ile727PhefsTer19
XM_017018171.1:c.2703del	XP_016873660.1:p.Ile902PhefsTer19
XM_017018172.2:c.63del	XP_016873661.1:p.Ile22PhefsTer19
NM_003105.6:c.2703del MANE Select	NP_003096.2:p.Ile902PhefsTer19