Canonical Allele Identifier: CA2004894210
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121500230_121500231delinsAG , CM000673.2:g.121500230_121500231delinsAG GRCh38
NC_000011.9:g.121370939_121370940delinsAG , CM000673.1:g.121370939_121370940delinsAG GRCh37
NC_000011.8:g.120876149_120876150delinsAG NCBI36
NG_023313.1:g.52979_52980delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.939+3181_939+3182delinsAG MANE Select ENSP00000260197.6:n.939+3181_939+3182delinsAG
ENST00000260197.11:c.939+3181_939+3182delinsAG ENSP00000260197.6:n.939+3181_939+3182delinsAG
ENST00000532451.1:n.891+3181_891+3182delinsAG
NM_003105.5:c.939+3181_939+3182delinsAG NP_003096.1:n.939+3181_939+3182delinsAG
XM_011542963.1:c.939+3181_939+3182delinsAG XP_011541265.1:n.939+3181_939+3182delinsAG
XM_011542964.1:c.939+3181_939+3182delinsAG XP_011541266.1:n.939+3181_939+3182delinsAG
XM_011542963.3:c.939+3181_939+3182delinsAG XP_011541265.1:n.939+3181_939+3182delinsAG
XM_011542965.3:c.-684+3181_-684+3182delinsAG XP_011541267.1:n.-684+3181_-684+3182delinsAG
XM_017018169.2:c.627+3181_627+3182delinsAG XP_016873658.1:n.627+3181_627+3182delinsAG
XM_017018170.2:c.414+3181_414+3182delinsAG XP_016873659.1:n.414+3181_414+3182delinsAG
XM_017018171.1:c.939+3181_939+3182delinsAG XP_016873660.1:n.939+3181_939+3182delinsAG
NM_003105.6:c.939+3181_939+3182delinsAG MANE Select NP_003096.2:n.939+3181_939+3182delinsAG