Canonical Allele Identifier: CA2004925713

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121610573_121610574delinsGC , CM000673.2:g.121610573_121610574delinsGC	GRCh38
NC_000011.9:g.121481282_121481283delinsGC , CM000673.1:g.121481282_121481283delinsGC	GRCh37
NC_000011.8:g.120986492_120986493delinsGC	NCBI36
NG_023313.1:g.163322_163323delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.5240-503_5240-502delinsGC MANE Select	ENSP00000260197.6:n.5240-503_5240-502delinsGC
ENST00000260197.11:c.5240-503_5240-502delinsGC	ENSP00000260197.6:n.5240-503_5240-502delinsGC
ENST00000525532.5:c.2072-503_2072-502delinsGC	ENSP00000434634.1:n.2072-503_2072-502delinsGC
ENST00000527934.1:c.1085-503_1085-502delinsGC	ENSP00000435405.1:n.1085-503_1085-502delinsGC
ENST00000528339.5:n.2374_2375delinsGC
ENST00000532694.5:c.1778-503_1778-502delinsGC	ENSP00000432131.1:n.1778-503_1778-502delinsGC
ENST00000534286.5:c.1970-503_1970-502delinsGC	ENSP00000436447.1:n.1970-503_1970-502delinsGC
NM_003105.5:c.5240-503_5240-502delinsGC	NP_003096.1:n.5240-503_5240-502delinsGC
XM_011542963.1:c.5126-503_5126-502delinsGC	XP_011541265.1:n.5126-503_5126-502delinsGC
XM_011542964.1:c.*48-503_*48-502delinsGC	XP_011541266.1:n.*48-503_*48-502delinsGC
XM_011542965.1:c.3701-503_3701-502delinsGC	XP_011541267.1:n.3701-503_3701-502delinsGC
XM_011542966.1:c.2600-503_2600-502delinsGC	XP_011541268.1:n.2600-503_2600-502delinsGC
XM_011542967.1:c.2072-503_2072-502delinsGC	XP_011541269.1:n.2072-503_2072-502delinsGC
XM_011542963.3:c.5126-503_5126-502delinsGC	XP_011541265.1:n.5126-503_5126-502delinsGC
XM_011542965.3:c.3701-503_3701-502delinsGC	XP_011541267.1:n.3701-503_3701-502delinsGC
XM_011542967.3:c.2072-503_2072-502delinsGC	XP_011541269.1:n.2072-503_2072-502delinsGC
XM_017018169.2:c.4928-503_4928-502delinsGC	XP_016873658.1:n.4928-503_4928-502delinsGC
XM_017018170.2:c.4715-503_4715-502delinsGC	XP_016873659.1:n.4715-503_4715-502delinsGC
XM_017018171.1:c.*1089_*1090delinsGC	XP_016873660.1:n.*1089_*1090delinsGC
XM_017018172.2:c.2600-503_2600-502delinsGC	XP_016873661.1:n.2600-503_2600-502delinsGC
NM_003105.6:c.5240-503_5240-502delinsGC MANE Select	NP_003096.2:n.5240-503_5240-502delinsGC