Canonical Allele Identifier: CA2004892269

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121496747_121496750delinsTATG , CM000673.2:g.121496747_121496750delinsTATG	GRCh38
NC_000011.9:g.121367456_121367459delinsTATG , CM000673.1:g.121367456_121367459delinsTATG	GRCh37
NC_000011.8:g.120872666_120872669delinsTATG	NCBI36
NG_023313.1:g.49496_49499delinsTATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.759-122_759-119delinsTATG MANE Select	ENSP00000260197.6:n.759-122_759-119delinsTATG
ENST00000260197.11:c.759-122_759-119delinsTATG	ENSP00000260197.6:n.759-122_759-119delinsTATG
ENST00000532451.1:n.711-122_711-119delinsTATG
NM_003105.5:c.759-122_759-119delinsTATG	NP_003096.1:n.759-122_759-119delinsTATG
XM_011542963.1:c.759-122_759-119delinsTATG	XP_011541265.1:n.759-122_759-119delinsTATG
XM_011542964.1:c.759-122_759-119delinsTATG	XP_011541266.1:n.759-122_759-119delinsTATG
XM_011542963.3:c.759-122_759-119delinsTATG	XP_011541265.1:n.759-122_759-119delinsTATG
XM_017018169.2:c.447-122_447-119delinsTATG	XP_016873658.1:n.447-122_447-119delinsTATG
XM_017018170.2:c.234-122_234-119delinsTATG	XP_016873659.1:n.234-122_234-119delinsTATG
XM_017018171.1:c.759-122_759-119delinsTATG	XP_016873660.1:n.759-122_759-119delinsTATG
NM_003105.6:c.759-122_759-119delinsTATG MANE Select	NP_003096.2:n.759-122_759-119delinsTATG