Canonical Allele Identifier: CA602226166

Gene: SORL1

Linked Data

• dbSNP Id: rs1282294727
• gnomAD v2: 11-121393128-CTCTG-C
• gnomAD v3: 11-121522419-CTCTG-C
• gnomAD v4: 11-121522419-CTCTG-C
• MyVariant Identifiers: chr11:g.121393129_121393132del (hg19) ; chr11:g.121522420_121522423del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522424_121522427del , CM000673.2:g.121522424_121522427del	GRCh38
NC_000011.9:g.121393133_121393136del , CM000673.1:g.121393133_121393136del	GRCh37
NC_000011.8:g.120898343_120898346del	NCBI36
NG_023313.1:g.75173_75176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1405-162_1405-159del MANE Select	ENSP00000260197.6:n.1405-162_1405-159del
ENST00000260197.11:c.1405-162_1405-159del	ENSP00000260197.6:n.1405-162_1405-159del
ENST00000532451.1:n.1357-162_1357-159del
NM_003105.5:c.1405-162_1405-159del	NP_003096.1:n.1405-162_1405-159del
XM_011542963.1:c.1405-162_1405-159del	XP_011541265.1:n.1405-162_1405-159del
XM_011542964.1:c.1405-162_1405-159del	XP_011541266.1:n.1405-162_1405-159del
XM_011542965.1:c.-218-162_-218-159del	XP_011541267.1:n.-218-162_-218-159del
XM_011542963.3:c.1405-162_1405-159del	XP_011541265.1:n.1405-162_1405-159del
XM_011542965.3:c.-218-162_-218-159del	XP_011541267.1:n.-218-162_-218-159del
XM_017018169.2:c.1093-162_1093-159del	XP_016873658.1:n.1093-162_1093-159del
XM_017018170.2:c.880-162_880-159del	XP_016873659.1:n.880-162_880-159del
XM_017018171.1:c.1405-162_1405-159del	XP_016873660.1:n.1405-162_1405-159del
NM_003105.6:c.1405-162_1405-159del MANE Select	NP_003096.2:n.1405-162_1405-159del