Canonical Allele Identifier: CA2519392597

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121500534_121500535insCACA , CM000673.2:g.121500534_121500535insCACA	GRCh38
NC_000011.9:g.121371243_121371244insCACA , CM000673.1:g.121371243_121371244insCACA	GRCh37
NC_000011.8:g.120876453_120876454insCACA	NCBI36
NG_023313.1:g.53283_53284insCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.939+3485_939+3486insCACA MANE Select	ENSP00000260197.6:n.939+3485_939+3486insCACA
ENST00000260197.11:c.939+3485_939+3486insCACA	ENSP00000260197.6:n.939+3485_939+3486insCACA
ENST00000532451.1:n.891+3485_891+3486insCACA
NM_003105.5:c.939+3485_939+3486insCACA	NP_003096.1:n.939+3485_939+3486insCACA
XM_011542963.1:c.939+3485_939+3486insCACA	XP_011541265.1:n.939+3485_939+3486insCACA
XM_011542964.1:c.939+3485_939+3486insCACA	XP_011541266.1:n.939+3485_939+3486insCACA
XM_011542963.3:c.939+3485_939+3486insCACA	XP_011541265.1:n.939+3485_939+3486insCACA
XM_011542965.3:c.-684+3485_-684+3486insCACA	XP_011541267.1:n.-684+3485_-684+3486insCACA
XM_017018169.2:c.627+3485_627+3486insCACA	XP_016873658.1:n.627+3485_627+3486insCACA
XM_017018170.2:c.414+3485_414+3486insCACA	XP_016873659.1:n.414+3485_414+3486insCACA
XM_017018171.1:c.939+3485_939+3486insCACA	XP_016873660.1:n.939+3485_939+3486insCACA
NM_003105.6:c.939+3485_939+3486insCACA MANE Select	NP_003096.2:n.939+3485_939+3486insCACA