Canonical Allele Identifier: CA2004916881
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121553022_121553023delinsGT , CM000673.2:g.121553022_121553023delinsGT GRCh38
NC_000011.9:g.121423731_121423732delinsGT , CM000673.1:g.121423731_121423732delinsGT GRCh37
NC_000011.8:g.120928941_120928942delinsGT NCBI36
NG_023313.1:g.105771_105772delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.2267-915_2267-914delinsGT MANE Select ENSP00000260197.6:n.2267-915_2267-914delinsGT
ENST00000260197.11:c.2267-915_2267-914delinsGT ENSP00000260197.6:n.2267-915_2267-914delinsGT
NM_003105.5:c.2267-915_2267-914delinsGT NP_003096.1:n.2267-915_2267-914delinsGT
XM_011542963.1:c.2267-915_2267-914delinsGT XP_011541265.1:n.2267-915_2267-914delinsGT
XM_011542964.1:c.2267-915_2267-914delinsGT XP_011541266.1:n.2267-915_2267-914delinsGT
XM_011542965.1:c.728-915_728-914delinsGT XP_011541267.1:n.728-915_728-914delinsGT
XM_011542963.3:c.2267-915_2267-914delinsGT XP_011541265.1:n.2267-915_2267-914delinsGT
XM_011542965.3:c.728-915_728-914delinsGT XP_011541267.1:n.728-915_728-914delinsGT
XM_017018169.2:c.1955-915_1955-914delinsGT XP_016873658.1:n.1955-915_1955-914delinsGT
XM_017018170.2:c.1742-915_1742-914delinsGT XP_016873659.1:n.1742-915_1742-914delinsGT
XM_017018171.1:c.2267-915_2267-914delinsGT XP_016873660.1:n.2267-915_2267-914delinsGT
XM_017018172.2:c.-282-915_-282-914delinsGT XP_016873661.1:n.-282-915_-282-914delinsGT
NM_003105.6:c.2267-915_2267-914delinsGT MANE Select NP_003096.2:n.2267-915_2267-914delinsGT