Canonical Allele Identifier: CA2004896276
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121505071_121505072delinsCA , CM000673.2:g.121505071_121505072delinsCA GRCh38
NC_000011.9:g.121375780_121375781delinsCA , CM000673.1:g.121375780_121375781delinsCA GRCh37
NC_000011.8:g.120880990_120880991delinsCA NCBI36
NG_023313.1:g.57820_57821delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.940-7932_940-7931delinsCA MANE Select ENSP00000260197.6:n.940-7932_940-7931delinsCA
ENST00000260197.11:c.940-7932_940-7931delinsCA ENSP00000260197.6:n.940-7932_940-7931delinsCA
ENST00000532451.1:n.892-7932_892-7931delinsCA
NM_003105.5:c.940-7932_940-7931delinsCA NP_003096.1:n.940-7932_940-7931delinsCA
XM_011542963.1:c.940-7932_940-7931delinsCA XP_011541265.1:n.940-7932_940-7931delinsCA
XM_011542964.1:c.940-7932_940-7931delinsCA XP_011541266.1:n.940-7932_940-7931delinsCA
XM_011542963.3:c.940-7932_940-7931delinsCA XP_011541265.1:n.940-7932_940-7931delinsCA
XM_011542965.3:c.-683-7932_-683-7931delinsCA XP_011541267.1:n.-683-7932_-683-7931delinsCA
XM_017018169.2:c.628-7932_628-7931delinsCA XP_016873658.1:n.628-7932_628-7931delinsCA
XM_017018170.2:c.415-7932_415-7931delinsCA XP_016873659.1:n.415-7932_415-7931delinsCA
XM_017018171.1:c.940-7932_940-7931delinsCA XP_016873660.1:n.940-7932_940-7931delinsCA
NM_003105.6:c.940-7932_940-7931delinsCA MANE Select NP_003096.2:n.940-7932_940-7931delinsCA