Canonical Allele Identifier: CA2603460165

Gene: SORL1

Linked Data

• dbSNP Id: rs2134834007
• gnomAD v3: 11-121505255-TA-T
• gnomAD v4: 11-121505255-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121505257del , CM000673.2:g.121505257del	GRCh38
NC_000011.9:g.121375966del , CM000673.1:g.121375966del	GRCh37
NC_000011.8:g.120881176del	NCBI36
NG_023313.1:g.58006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.940-7746del MANE Select	ENSP00000260197.6:n.940-7746del
ENST00000260197.11:c.940-7746del	ENSP00000260197.6:n.940-7746del
ENST00000532451.1:n.892-7746del
NM_003105.5:c.940-7746del	NP_003096.1:n.940-7746del
XM_011542963.1:c.940-7746del	XP_011541265.1:n.940-7746del
XM_011542964.1:c.940-7746del	XP_011541266.1:n.940-7746del
XM_011542963.3:c.940-7746del	XP_011541265.1:n.940-7746del
XM_011542965.3:c.-683-7746del	XP_011541267.1:n.-683-7746del
XM_017018169.2:c.628-7746del	XP_016873658.1:n.628-7746del
XM_017018170.2:c.415-7746del	XP_016873659.1:n.415-7746del
XM_017018171.1:c.940-7746del	XP_016873660.1:n.940-7746del
NM_003105.6:c.940-7746del MANE Select	NP_003096.2:n.940-7746del