Canonical Allele Identifier: CA2004929134
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121618528_121618529delinsGC , CM000673.2:g.121618528_121618529delinsGC GRCh38
NC_000011.9:g.121489237_121489238delinsGC , CM000673.1:g.121489237_121489238delinsGC GRCh37
NC_000011.8:g.120994447_120994448delinsGC NCBI36
NG_023313.1:g.171277_171278delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.5605-246_5605-245delinsGC MANE Select ENSP00000260197.6:n.5605-246_5605-245delinsGC
ENST00000260197.11:c.5605-246_5605-245delinsGC ENSP00000260197.6:n.5605-246_5605-245delinsGC
ENST00000524633.1:n.771-246_771-245delinsGC
ENST00000525532.5:c.2437-246_2437-245delinsGC ENSP00000434634.1:n.2437-246_2437-245delinsGC
ENST00000527934.1:c.1450-246_1450-245delinsGC ENSP00000435405.1:n.1450-246_1450-245delinsGC
ENST00000528339.5:n.3242-246_3242-245delinsGC
ENST00000532694.5:c.2143-246_2143-245delinsGC ENSP00000432131.1:n.2143-246_2143-245delinsGC
ENST00000534286.5:c.2335-246_2335-245delinsGC ENSP00000436447.1:n.2335-246_2335-245delinsGC
ENST00000534754.5:n.1767-246_1767-245delinsGC
NM_003105.5:c.5605-246_5605-245delinsGC NP_003096.1:n.5605-246_5605-245delinsGC
XM_011542963.1:c.5491-246_5491-245delinsGC XP_011541265.1:n.5491-246_5491-245delinsGC
XM_011542965.1:c.4066-246_4066-245delinsGC XP_011541267.1:n.4066-246_4066-245delinsGC
XM_011542966.1:c.2965-246_2965-245delinsGC XP_011541268.1:n.2965-246_2965-245delinsGC
XM_011542967.1:c.2437-246_2437-245delinsGC XP_011541269.1:n.2437-246_2437-245delinsGC
XM_011542963.3:c.5491-246_5491-245delinsGC XP_011541265.1:n.5491-246_5491-245delinsGC
XM_011542965.3:c.4066-246_4066-245delinsGC XP_011541267.1:n.4066-246_4066-245delinsGC
XM_011542967.3:c.2437-246_2437-245delinsGC XP_011541269.1:n.2437-246_2437-245delinsGC
XM_017018169.2:c.5293-246_5293-245delinsGC XP_016873658.1:n.5293-246_5293-245delinsGC
XM_017018170.2:c.5080-246_5080-245delinsGC XP_016873659.1:n.5080-246_5080-245delinsGC
XM_017018172.2:c.2965-246_2965-245delinsGC XP_016873661.1:n.2965-246_2965-245delinsGC
NM_003105.6:c.5605-246_5605-245delinsGC MANE Select NP_003096.2:n.5605-246_5605-245delinsGC