Canonical Allele Identifier: CA477310129

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121375967_121375969del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121505259_121505261del , CM000673.2:g.121505259_121505261del	GRCh38
NC_000011.9:g.121375968_121375970del , CM000673.1:g.121375968_121375970del	GRCh37
NC_000011.8:g.120881178_120881180del	NCBI36
NG_023313.1:g.58008_58010del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.940-7744_940-7742del MANE Select	ENSP00000260197.6:n.940-7744_940-7742del
ENST00000260197.11:c.940-7744_940-7742del	ENSP00000260197.6:n.940-7744_940-7742del
ENST00000532451.1:n.892-7744_892-7742del
NM_003105.5:c.940-7744_940-7742del	NP_003096.1:n.940-7744_940-7742del
XM_011542963.1:c.940-7744_940-7742del	XP_011541265.1:n.940-7744_940-7742del
XM_011542964.1:c.940-7744_940-7742del	XP_011541266.1:n.940-7744_940-7742del
XM_011542963.3:c.940-7744_940-7742del	XP_011541265.1:n.940-7744_940-7742del
XM_011542965.3:c.-683-7744_-683-7742del	XP_011541267.1:n.-683-7744_-683-7742del
XM_017018169.2:c.628-7744_628-7742del	XP_016873658.1:n.628-7744_628-7742del
XM_017018170.2:c.415-7744_415-7742del	XP_016873659.1:n.415-7744_415-7742del
XM_017018171.1:c.940-7744_940-7742del	XP_016873660.1:n.940-7744_940-7742del
NM_003105.6:c.940-7744_940-7742del MANE Select	NP_003096.2:n.940-7744_940-7742del