Canonical Allele Identifier: CA2004951339

Gene: SORL1

Linked Data

• dbSNP Id: rs1863103027
• gnomAD v4: 11-121586158-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121586165_121586166del , CM000673.2:g.121586165_121586166del	GRCh38
NC_000011.9:g.121456874_121456875del , CM000673.1:g.121456874_121456875del	GRCh37
NC_000011.8:g.120962084_120962085del	NCBI36
NG_023313.1:g.138914_138915del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3707-57_3707-56del MANE Select	ENSP00000260197.6:n.3707-57_3707-56del
ENST00000260197.11:c.3707-57_3707-56del	ENSP00000260197.6:n.3707-57_3707-56del
ENST00000525532.5:c.539-57_539-56del	ENSP00000434634.1:n.539-57_539-56del
ENST00000532694.5:c.245-57_245-56del	ENSP00000432131.1:n.245-57_245-56del
ENST00000534286.5:c.437-57_437-56del	ENSP00000436447.1:n.437-57_437-56del
NM_003105.5:c.3707-57_3707-56del	NP_003096.1:n.3707-57_3707-56del
XM_011542963.1:c.3593-57_3593-56del	XP_011541265.1:n.3593-57_3593-56del
XM_011542964.1:c.3707-57_3707-56del	XP_011541266.1:n.3707-57_3707-56del
XM_011542965.1:c.2168-57_2168-56del	XP_011541267.1:n.2168-57_2168-56del
XM_011542966.1:c.1067-57_1067-56del	XP_011541268.1:n.1067-57_1067-56del
XM_011542967.1:c.539-57_539-56del	XP_011541269.1:n.539-57_539-56del
XM_011542963.3:c.3593-57_3593-56del	XP_011541265.1:n.3593-57_3593-56del
XM_011542965.3:c.2168-57_2168-56del	XP_011541267.1:n.2168-57_2168-56del
XM_011542967.3:c.539-57_539-56del	XP_011541269.1:n.539-57_539-56del
XM_017018169.2:c.3395-57_3395-56del	XP_016873658.1:n.3395-57_3395-56del
XM_017018170.2:c.3182-57_3182-56del	XP_016873659.1:n.3182-57_3182-56del
XM_017018171.1:c.3707-57_3707-56del	XP_016873660.1:n.3707-57_3707-56del
XM_017018172.2:c.1067-57_1067-56del	XP_016873661.1:n.1067-57_1067-56del
NM_003105.6:c.3707-57_3707-56del MANE Select	NP_003096.2:n.3707-57_3707-56del