Canonical Allele Identifier: CA672582375

Gene: SORL1

Linked Data

• dbSNP Id: rs1391069288
• gnomAD v3: 11-121552816-TAACCCAGGCATGCAGCA-T
• gnomAD v4: 11-121552816-TAACCCAGGCATGCAGCA-T
• MyVariant Identifiers: chr11:g.121423526_121423542del (hg19) ; chr11:g.121552817_121552833del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121552819_121552835del , CM000673.2:g.121552819_121552835del	GRCh38
NC_000011.9:g.121423528_121423544del , CM000673.1:g.121423528_121423544del	GRCh37
NC_000011.8:g.120928738_120928754del	NCBI36
NG_023313.1:g.105568_105584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2267-1118_2267-1102del MANE Select	ENSP00000260197.6:n.2267-1118_2267-1102del
ENST00000260197.11:c.2267-1118_2267-1102del	ENSP00000260197.6:n.2267-1118_2267-1102del
NM_003105.5:c.2267-1118_2267-1102del	NP_003096.1:n.2267-1118_2267-1102del
XM_011542963.1:c.2267-1118_2267-1102del	XP_011541265.1:n.2267-1118_2267-1102del
XM_011542964.1:c.2267-1118_2267-1102del	XP_011541266.1:n.2267-1118_2267-1102del
XM_011542965.1:c.728-1118_728-1102del	XP_011541267.1:n.728-1118_728-1102del
XM_011542963.3:c.2267-1118_2267-1102del	XP_011541265.1:n.2267-1118_2267-1102del
XM_011542965.3:c.728-1118_728-1102del	XP_011541267.1:n.728-1118_728-1102del
XM_017018169.2:c.1955-1118_1955-1102del	XP_016873658.1:n.1955-1118_1955-1102del
XM_017018170.2:c.1742-1118_1742-1102del	XP_016873659.1:n.1742-1118_1742-1102del
XM_017018171.1:c.2267-1118_2267-1102del	XP_016873660.1:n.2267-1118_2267-1102del
XM_017018172.2:c.-282-1118_-282-1102del	XP_016873661.1:n.-282-1118_-282-1102del
NM_003105.6:c.2267-1118_2267-1102del MANE Select	NP_003096.2:n.2267-1118_2267-1102del