Canonical Allele Identifier: CA602411586

Gene: SORL1

Linked Data

• dbSNP Id: rs551145449
• gnomAD v2: 11-121357189-CTTTT-C
• gnomAD v3: 11-121486480-CTTTT-C
• gnomAD v4: 11-121486480-CTTTT-C
• MyVariant Identifiers: chr11:g.121357190_121357193del (hg19) ; chr11:g.121486481_121486484del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121486494_121486497del , CM000673.2:g.121486494_121486497del	GRCh38
NC_000011.9:g.121357203_121357206del , CM000673.1:g.121357203_121357206del	GRCh37
NC_000011.8:g.120862413_120862416del	NCBI36
NG_023313.1:g.39243_39246del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.529-1538_529-1535del MANE Select	ENSP00000260197.6:n.529-1538_529-1535del
ENST00000260197.11:c.529-1538_529-1535del	ENSP00000260197.6:n.529-1538_529-1535del
ENST00000532451.1:n.481-1538_481-1535del
NM_003105.5:c.529-1538_529-1535del	NP_003096.1:n.529-1538_529-1535del
XM_011542963.1:c.529-1538_529-1535del	XP_011541265.1:n.529-1538_529-1535del
XM_011542964.1:c.529-1538_529-1535del	XP_011541266.1:n.529-1538_529-1535del
XM_011542963.3:c.529-1538_529-1535del	XP_011541265.1:n.529-1538_529-1535del
XM_017018169.2:c.217-1538_217-1535del	XP_016873658.1:n.217-1538_217-1535del
XM_017018170.2:c.3+37_3+40del	XP_016873659.1:n.3+37_3+40del
XM_017018171.1:c.529-1538_529-1535del	XP_016873660.1:n.529-1538_529-1535del
NM_003105.6:c.529-1538_529-1535del MANE Select	NP_003096.2:n.529-1538_529-1535del