Canonical Allele Identifier: CA2523801405

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121486503_121486504del , CM000673.2:g.121486503_121486504del	GRCh38
NC_000011.9:g.121357212_121357213del , CM000673.1:g.121357212_121357213del	GRCh37
NC_000011.8:g.120862422_120862423del	NCBI36
NG_023313.1:g.39252_39253del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.529-1529_529-1528del MANE Select	ENSP00000260197.6:n.529-1529_529-1528del
ENST00000260197.11:c.529-1529_529-1528del	ENSP00000260197.6:n.529-1529_529-1528del
ENST00000532451.1:n.481-1529_481-1528del
NM_003105.5:c.529-1529_529-1528del	NP_003096.1:n.529-1529_529-1528del
XM_011542963.1:c.529-1529_529-1528del	XP_011541265.1:n.529-1529_529-1528del
XM_011542964.1:c.529-1529_529-1528del	XP_011541266.1:n.529-1529_529-1528del
XM_011542963.3:c.529-1529_529-1528del	XP_011541265.1:n.529-1529_529-1528del
XM_017018169.2:c.217-1529_217-1528del	XP_016873658.1:n.217-1529_217-1528del
XM_017018170.2:c.3+46_3+47del	XP_016873659.1:n.3+46_3+47del
XM_017018171.1:c.529-1529_529-1528del	XP_016873660.1:n.529-1529_529-1528del
NM_003105.6:c.529-1529_529-1528del MANE Select	NP_003096.2:n.529-1529_529-1528del