Canonical Allele Identifier: CA2004916792

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121552816_121552833delinsTAACCCAGGCATGCAGCA , CM000673.2:g.121552816_121552833delinsTAACCCAGGCATGCAGCA	GRCh38
NC_000011.9:g.121423525_121423542delinsTAACCCAGGCATGCAGCA , CM000673.1:g.121423525_121423542delinsTAACCCAGGCATGCAGCA	GRCh37
NC_000011.8:g.120928735_120928752delinsTAACCCAGGCATGCAGCA	NCBI36
NG_023313.1:g.105565_105582delinsTAACCCAGGCATGCAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2267-1121_2267-1104delinsTAACCCAGGCATGCAGCA MANE Select	ENSP00000260197.6:n.2267-1121_2267-1104delinsTAACCCAGGCATGCAG...
ENST00000260197.11:c.2267-1121_2267-1104delinsTAACCCAGGCATGCAGCA	ENSP00000260197.6:n.2267-1121_2267-1104delinsTAACCCAGGCATGCAG...
NM_003105.5:c.2267-1121_2267-1104delinsTAACCCAGGCATGCAGCA	NP_003096.1:n.2267-1121_2267-1104delinsTAACCCAGGCATGCAGCA
XM_011542963.1:c.2267-1121_2267-1104delinsTAACCCAGGCATGCAGCA	XP_011541265.1:n.2267-1121_2267-1104delinsTAACCCAGGCATGCAGCA
XM_011542964.1:c.2267-1121_2267-1104delinsTAACCCAGGCATGCAGCA	XP_011541266.1:n.2267-1121_2267-1104delinsTAACCCAGGCATGCAGCA
XM_011542965.1:c.728-1121_728-1104delinsTAACCCAGGCATGCAGCA	XP_011541267.1:n.728-1121_728-1104delinsTAACCCAGGCATGCAGCA
XM_011542963.3:c.2267-1121_2267-1104delinsTAACCCAGGCATGCAGCA	XP_011541265.1:n.2267-1121_2267-1104delinsTAACCCAGGCATGCAGCA
XM_011542965.3:c.728-1121_728-1104delinsTAACCCAGGCATGCAGCA	XP_011541267.1:n.728-1121_728-1104delinsTAACCCAGGCATGCAGCA
XM_017018169.2:c.1955-1121_1955-1104delinsTAACCCAGGCATGCAGCA	XP_016873658.1:n.1955-1121_1955-1104delinsTAACCCAGGCATGCAGCA
XM_017018170.2:c.1742-1121_1742-1104delinsTAACCCAGGCATGCAGCA	XP_016873659.1:n.1742-1121_1742-1104delinsTAACCCAGGCATGCAGCA
XM_017018171.1:c.2267-1121_2267-1104delinsTAACCCAGGCATGCAGCA	XP_016873660.1:n.2267-1121_2267-1104delinsTAACCCAGGCATGCAGCA
XM_017018172.2:c.-282-1121_-282-1104delinsTAACCCAGGCATGCAGCA	XP_016873661.1:n.-282-1121_-282-1104delinsTAACCCAGGCATGCAGCA
NM_003105.6:c.2267-1121_2267-1104delinsTAACCCAGGCATGCAGCA MANE Select	NP_003096.2:n.2267-1121_2267-1104delinsTAACCCAGGCATGCAGCA