Canonical Allele Identifier: CA2004916822

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121552869_121552884delinsACACACTGTCAAGATG , CM000673.2:g.121552869_121552884delinsACACACTGTCAAGATG	GRCh38
NC_000011.9:g.121423578_121423593delinsACACACTGTCAAGATG , CM000673.1:g.121423578_121423593delinsACACACTGTCAAGATG	GRCh37
NC_000011.8:g.120928788_120928803delinsACACACTGTCAAGATG	NCBI36
NG_023313.1:g.105618_105633delinsACACACTGTCAAGATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2267-1068_2267-1053delinsACACACTGTCAAGATG MANE Select	ENSP00000260197.6:n.2267-1068_2267-1053delinsACACACTGTCAAGATG...
ENST00000260197.11:c.2267-1068_2267-1053delinsACACACTGTCAAGATG	ENSP00000260197.6:n.2267-1068_2267-1053delinsACACACTGTCAAGATG...
NM_003105.5:c.2267-1068_2267-1053delinsACACACTGTCAAGATG	NP_003096.1:n.2267-1068_2267-1053delinsACACACTGTCAAGATG
XM_011542963.1:c.2267-1068_2267-1053delinsACACACTGTCAAGATG	XP_011541265.1:n.2267-1068_2267-1053delinsACACACTGTCAAGATG
XM_011542964.1:c.2267-1068_2267-1053delinsACACACTGTCAAGATG	XP_011541266.1:n.2267-1068_2267-1053delinsACACACTGTCAAGATG
XM_011542965.1:c.728-1068_728-1053delinsACACACTGTCAAGATG	XP_011541267.1:n.728-1068_728-1053delinsACACACTGTCAAGATG
XM_011542963.3:c.2267-1068_2267-1053delinsACACACTGTCAAGATG	XP_011541265.1:n.2267-1068_2267-1053delinsACACACTGTCAAGATG
XM_011542965.3:c.728-1068_728-1053delinsACACACTGTCAAGATG	XP_011541267.1:n.728-1068_728-1053delinsACACACTGTCAAGATG
XM_017018169.2:c.1955-1068_1955-1053delinsACACACTGTCAAGATG	XP_016873658.1:n.1955-1068_1955-1053delinsACACACTGTCAAGATG
XM_017018170.2:c.1742-1068_1742-1053delinsACACACTGTCAAGATG	XP_016873659.1:n.1742-1068_1742-1053delinsACACACTGTCAAGATG
XM_017018171.1:c.2267-1068_2267-1053delinsACACACTGTCAAGATG	XP_016873660.1:n.2267-1068_2267-1053delinsACACACTGTCAAGATG
XM_017018172.2:c.-282-1068_-282-1053delinsACACACTGTCAAGATG	XP_016873661.1:n.-282-1068_-282-1053delinsACACACTGTCAAGATG
NM_003105.6:c.2267-1068_2267-1053delinsACACACTGTCAAGATG MANE Select	NP_003096.2:n.2267-1068_2267-1053delinsACACACTGTCAAGATG