Canonical Allele Identifier: CA229902736

Gene: SORL1

Linked Data

• dbSNP Id: rs35214231
• MyVariant Identifiers: chr11:g.121429340_121429341insT (hg19) ; chr11:g.121558631_121558632insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558634dup , CM000673.2:g.121558634dup	GRCh38
NC_000011.9:g.121429343dup , CM000673.1:g.121429343dup	GRCh37
NC_000011.8:g.120934553dup	NCBI36
NG_023313.1:g.111383dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2707dup MANE Select	ENSP00000260197.6:p.Tyr903LeufsTer16
ENST00000260197.11:c.2707dup	ENSP00000260197.6:p.Tyr903LeufsTer16
ENST00000524873.1:n.435dup
ENST00000529445.1:n.413dup
NM_003105.5:c.2707dup	NP_003096.1:p.Tyr903LeufsTer16
XM_011542963.1:c.2707dup	XP_011541265.1:p.Tyr903LeufsTer16
XM_011542964.1:c.2707dup	XP_011541266.1:p.Tyr903LeufsTer16
XM_011542965.1:c.1168dup	XP_011541267.1:p.Tyr390LeufsTer16
XM_011542966.1:c.67dup	XP_011541268.1:p.Tyr23LeufsTer16
XM_011542963.3:c.2707dup	XP_011541265.1:p.Tyr903LeufsTer16
XM_011542965.3:c.1168dup	XP_011541267.1:p.Tyr390LeufsTer16
XM_017018169.2:c.2395dup	XP_016873658.1:p.Tyr799LeufsTer16
XM_017018170.2:c.2182dup	XP_016873659.1:p.Tyr728LeufsTer16
XM_017018171.1:c.2707dup	XP_016873660.1:p.Tyr903LeufsTer16
XM_017018172.2:c.67dup	XP_016873661.1:p.Tyr23LeufsTer16
NM_003105.6:c.2707dup MANE Select	NP_003096.2:p.Tyr903LeufsTer16