Canonical Allele Identifier: CA672581692

Gene: SORL1

Linked Data

• dbSNP Id: rs1422781803
• gnomAD v3: 11-121500079-TTG-T
• gnomAD v4: 11-121500079-TTG-T
• MyVariant Identifiers: chr11:g.121370789_121370790del (hg19) ; chr11:g.121500080_121500081del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121500080_121500081del , CM000673.2:g.121500080_121500081del	GRCh38
NC_000011.9:g.121370789_121370790del , CM000673.1:g.121370789_121370790del	GRCh37
NC_000011.8:g.120875999_120876000del	NCBI36
NG_023313.1:g.52829_52830del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.939+3031_939+3032del MANE Select	ENSP00000260197.6:n.939+3031_939+3032del
ENST00000260197.11:c.939+3031_939+3032del	ENSP00000260197.6:n.939+3031_939+3032del
ENST00000532451.1:n.891+3031_891+3032del
NM_003105.5:c.939+3031_939+3032del	NP_003096.1:n.939+3031_939+3032del
XM_011542963.1:c.939+3031_939+3032del	XP_011541265.1:n.939+3031_939+3032del
XM_011542964.1:c.939+3031_939+3032del	XP_011541266.1:n.939+3031_939+3032del
XM_011542963.3:c.939+3031_939+3032del	XP_011541265.1:n.939+3031_939+3032del
XM_011542965.3:c.-684+3031_-684+3032del	XP_011541267.1:n.-684+3031_-684+3032del
XM_017018169.2:c.627+3031_627+3032del	XP_016873658.1:n.627+3031_627+3032del
XM_017018170.2:c.414+3031_414+3032del	XP_016873659.1:n.414+3031_414+3032del
XM_017018171.1:c.939+3031_939+3032del	XP_016873660.1:n.939+3031_939+3032del
NM_003105.6:c.939+3031_939+3032del MANE Select	NP_003096.2:n.939+3031_939+3032del