Canonical Allele Identifier: CA2793899689

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121618513_121618516del , CM000673.2:g.121618513_121618516del	GRCh38
NC_000011.9:g.121489222_121489225del , CM000673.1:g.121489222_121489225del	GRCh37
NC_000011.8:g.120994432_120994435del	NCBI36
NG_023313.1:g.171262_171265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.5605-261_5605-258del MANE Select	ENSP00000260197.6:n.5605-261_5605-258del
ENST00000260197.11:c.5605-261_5605-258del	ENSP00000260197.6:n.5605-261_5605-258del
ENST00000524633.1:n.771-261_771-258del
ENST00000525532.5:c.2437-261_2437-258del	ENSP00000434634.1:n.2437-261_2437-258del
ENST00000527934.1:c.1450-261_1450-258del	ENSP00000435405.1:n.1450-261_1450-258del
ENST00000528339.5:n.3242-261_3242-258del
ENST00000532694.5:c.2143-261_2143-258del	ENSP00000432131.1:n.2143-261_2143-258del
ENST00000534286.5:c.2335-261_2335-258del	ENSP00000436447.1:n.2335-261_2335-258del
ENST00000534754.5:n.1767-261_1767-258del
NM_003105.5:c.5605-261_5605-258del	NP_003096.1:n.5605-261_5605-258del
XM_011542963.1:c.5491-261_5491-258del	XP_011541265.1:n.5491-261_5491-258del
XM_011542965.1:c.4066-261_4066-258del	XP_011541267.1:n.4066-261_4066-258del
XM_011542966.1:c.2965-261_2965-258del	XP_011541268.1:n.2965-261_2965-258del
XM_011542967.1:c.2437-261_2437-258del	XP_011541269.1:n.2437-261_2437-258del
XM_011542963.3:c.5491-261_5491-258del	XP_011541265.1:n.5491-261_5491-258del
XM_011542965.3:c.4066-261_4066-258del	XP_011541267.1:n.4066-261_4066-258del
XM_011542967.3:c.2437-261_2437-258del	XP_011541269.1:n.2437-261_2437-258del
XM_017018169.2:c.5293-261_5293-258del	XP_016873658.1:n.5293-261_5293-258del
XM_017018170.2:c.5080-261_5080-258del	XP_016873659.1:n.5080-261_5080-258del
XM_017018172.2:c.2965-261_2965-258del	XP_016873661.1:n.2965-261_2965-258del
NM_003105.6:c.5605-261_5605-258del MANE Select	NP_003096.2:n.5605-261_5605-258del