Canonical Allele Identifier: CA942950857

Gene: SORL1

Linked Data

• dbSNP Id: rs1861689320
• gnomAD v3: 11-121500053-CTTGTTTAATTTTTA-C
• gnomAD v4: 11-121500053-CTTGTTTAATTTTTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121500056_121500069del , CM000673.2:g.121500056_121500069del	GRCh38
NC_000011.9:g.121370765_121370778del , CM000673.1:g.121370765_121370778del	GRCh37
NC_000011.8:g.120875975_120875988del	NCBI36
NG_023313.1:g.52805_52818del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.939+3007_939+3020del MANE Select	ENSP00000260197.6:n.939+3007_939+3020del
ENST00000260197.11:c.939+3007_939+3020del	ENSP00000260197.6:n.939+3007_939+3020del
ENST00000532451.1:n.891+3007_891+3020del
NM_003105.5:c.939+3007_939+3020del	NP_003096.1:n.939+3007_939+3020del
XM_011542963.1:c.939+3007_939+3020del	XP_011541265.1:n.939+3007_939+3020del
XM_011542964.1:c.939+3007_939+3020del	XP_011541266.1:n.939+3007_939+3020del
XM_011542963.3:c.939+3007_939+3020del	XP_011541265.1:n.939+3007_939+3020del
XM_011542965.3:c.-684+3007_-684+3020del	XP_011541267.1:n.-684+3007_-684+3020del
XM_017018169.2:c.627+3007_627+3020del	XP_016873658.1:n.627+3007_627+3020del
XM_017018170.2:c.414+3007_414+3020del	XP_016873659.1:n.414+3007_414+3020del
XM_017018171.1:c.939+3007_939+3020del	XP_016873660.1:n.939+3007_939+3020del
NM_003105.6:c.939+3007_939+3020del MANE Select	NP_003096.2:n.939+3007_939+3020del