Canonical Allele Identifier: CA2616504357
Gene: SORL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121610726_121610826del , CM000673.2:g.121610726_121610826del GRCh38
NC_000011.9:g.121481435_121481535del , CM000673.1:g.121481435_121481535del GRCh37
NC_000011.8:g.120986645_120986745del NCBI36
NG_023313.1:g.163475_163575del

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.5240-350_5240-250del MANE Select ENSP00000260197.6:n.5240-350_5240-250del
ENST00000260197.11:c.5240-350_5240-250del ENSP00000260197.6:n.5240-350_5240-250del
ENST00000525532.5:c.2072-350_2072-250del ENSP00000434634.1:n.2072-350_2072-250del
ENST00000527934.1:c.1085-350_1085-250del ENSP00000435405.1:n.1085-350_1085-250del
ENST00000528339.5:n.2527_2627del
ENST00000532694.5:c.1778-350_1778-250del ENSP00000432131.1:n.1778-350_1778-250del
ENST00000534286.5:c.1970-350_1970-250del ENSP00000436447.1:n.1970-350_1970-250del
NM_003105.5:c.5240-350_5240-250del NP_003096.1:n.5240-350_5240-250del
XM_011542963.1:c.5126-350_5126-250del XP_011541265.1:n.5126-350_5126-250del
XM_011542964.1:c.*48-350_*48-250del XP_011541266.1:n.*48-350_*48-250del
XM_011542965.1:c.3701-350_3701-250del XP_011541267.1:n.3701-350_3701-250del
XM_011542966.1:c.2600-350_2600-250del XP_011541268.1:n.2600-350_2600-250del
XM_011542967.1:c.2072-350_2072-250del XP_011541269.1:n.2072-350_2072-250del
XM_011542963.3:c.5126-350_5126-250del XP_011541265.1:n.5126-350_5126-250del
XM_011542965.3:c.3701-350_3701-250del XP_011541267.1:n.3701-350_3701-250del
XM_011542967.3:c.2072-350_2072-250del XP_011541269.1:n.2072-350_2072-250del
XM_017018169.2:c.4928-350_4928-250del XP_016873658.1:n.4928-350_4928-250del
XM_017018170.2:c.4715-350_4715-250del XP_016873659.1:n.4715-350_4715-250del
XM_017018171.1:c.*1242_*1342del XP_016873660.1:n.*1242_*1342del
XM_017018172.2:c.2600-350_2600-250del XP_016873661.1:n.2600-350_2600-250del
NM_003105.6:c.5240-350_5240-250del MANE Select NP_003096.2:n.5240-350_5240-250del