Canonical Allele Identifier: CA2616496860

Gene: SORL1

Linked Data

• gnomAD v4: 11-121522995-CCCCCTCCCCCAATCCCGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121523003_121523020del , CM000673.2:g.121523003_121523020del	GRCh38
NC_000011.9:g.121393712_121393729del , CM000673.1:g.121393712_121393729del	GRCh37
NC_000011.8:g.120898922_120898939del	NCBI36
NG_023313.1:g.75752_75769del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1596+14_1596+31del MANE Select	ENSP00000260197.6:n.1596+14_1596+31del
ENST00000260197.11:c.1596+14_1596+31del	ENSP00000260197.6:n.1596+14_1596+31del
ENST00000532451.1:n.1548+14_1548+31del
NM_003105.5:c.1596+14_1596+31del	NP_003096.1:n.1596+14_1596+31del
XM_011542963.1:c.1596+14_1596+31del	XP_011541265.1:n.1596+14_1596+31del
XM_011542964.1:c.1596+14_1596+31del	XP_011541266.1:n.1596+14_1596+31del
XM_011542965.1:c.-27+14_-27+31del	XP_011541267.1:n.-27+14_-27+31del
XM_011542963.3:c.1596+14_1596+31del	XP_011541265.1:n.1596+14_1596+31del
XM_011542965.3:c.-27+14_-27+31del	XP_011541267.1:n.-27+14_-27+31del
XM_017018169.2:c.1284+14_1284+31del	XP_016873658.1:n.1284+14_1284+31del
XM_017018170.2:c.1071+14_1071+31del	XP_016873659.1:n.1071+14_1071+31del
XM_017018171.1:c.1596+14_1596+31del	XP_016873660.1:n.1596+14_1596+31del
NM_003105.6:c.1596+14_1596+31del MANE Select	NP_003096.2:n.1596+14_1596+31del