Canonical Allele Identifier: CA2004929181
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121618617_121618618delinsGC , CM000673.2:g.121618617_121618618delinsGC GRCh38
NC_000011.9:g.121489326_121489327delinsGC , CM000673.1:g.121489326_121489327delinsGC GRCh37
NC_000011.8:g.120994536_120994537delinsGC NCBI36
NG_023313.1:g.171366_171367delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.5605-157_5605-156delinsGC MANE Select ENSP00000260197.6:n.5605-157_5605-156deli...
ENST00000260197.11:c.5605-157_5605-156delinsGC ENSP00000260197.6:n.5605-157_5605-156deli...
ENST00000524633.1:n.771-157_771-156delinsGC
ENST00000525532.5:c.2437-157_2437-156delinsGC ENSP00000434634.1:n.2437-157_2437-156deli...
ENST00000527934.1:c.1450-157_1450-156delinsGC ENSP00000435405.1:n.1450-157_1450-156deli...
ENST00000528339.5:n.3242-157_3242-156delinsGC
ENST00000532694.5:c.2143-157_2143-156delinsGC ENSP00000432131.1:n.2143-157_2143-156deli...
ENST00000534286.5:c.2335-157_2335-156delinsGC ENSP00000436447.1:n.2335-157_2335-156deli...
ENST00000534754.5:n.1767-157_1767-156delinsGC
NM_003105.5:c.5605-157_5605-156delinsGC NP_003096.1:n.5605-157_5605-156delinsGC
XM_011542963.1:c.5491-157_5491-156delinsGC XP_011541265.1:n.5491-157_5491-156delinsG...
XM_011542965.1:c.4066-157_4066-156delinsGC XP_011541267.1:n.4066-157_4066-156delinsG...
XM_011542966.1:c.2965-157_2965-156delinsGC XP_011541268.1:n.2965-157_2965-156delinsG...
XM_011542967.1:c.2437-157_2437-156delinsGC XP_011541269.1:n.2437-157_2437-156delinsG...
XM_011542963.3:c.5491-157_5491-156delinsGC XP_011541265.1:n.5491-157_5491-156delinsG...
XM_011542965.3:c.4066-157_4066-156delinsGC XP_011541267.1:n.4066-157_4066-156delinsG...
XM_011542967.3:c.2437-157_2437-156delinsGC XP_011541269.1:n.2437-157_2437-156delinsG...
XM_017018169.2:c.5293-157_5293-156delinsGC XP_016873658.1:n.5293-157_5293-156delinsG...
XM_017018170.2:c.5080-157_5080-156delinsGC XP_016873659.1:n.5080-157_5080-156delinsG...
XM_017018172.2:c.2965-157_2965-156delinsGC XP_016873661.1:n.2965-157_2965-156delinsG...
NM_003105.6:c.5605-157_5605-156delinsGC MANE Select NP_003096.2:n.5605-157_5605-156delinsGC