Canonical Allele Identifier: CA2004910265

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522419_121522423delinsCTCTG , CM000673.2:g.121522419_121522423delinsCTCTG	GRCh38
NC_000011.9:g.121393128_121393132delinsCTCTG , CM000673.1:g.121393128_121393132delinsCTCTG	GRCh37
NC_000011.8:g.120898338_120898342delinsCTCTG	NCBI36
NG_023313.1:g.75168_75172delinsCTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1405-167_1405-163delinsCTCTG MANE Select	ENSP00000260197.6:n.1405-167_1405-163delinsCTCTG
ENST00000260197.11:c.1405-167_1405-163delinsCTCTG	ENSP00000260197.6:n.1405-167_1405-163delinsCTCTG
ENST00000532451.1:n.1357-167_1357-163delinsCTCTG
NM_003105.5:c.1405-167_1405-163delinsCTCTG	NP_003096.1:n.1405-167_1405-163delinsCTCTG
XM_011542963.1:c.1405-167_1405-163delinsCTCTG	XP_011541265.1:n.1405-167_1405-163delinsCTCTG
XM_011542964.1:c.1405-167_1405-163delinsCTCTG	XP_011541266.1:n.1405-167_1405-163delinsCTCTG
XM_011542965.1:c.-218-167_-218-163delinsCTCTG	XP_011541267.1:n.-218-167_-218-163delinsCTCTG
XM_011542963.3:c.1405-167_1405-163delinsCTCTG	XP_011541265.1:n.1405-167_1405-163delinsCTCTG
XM_011542965.3:c.-218-167_-218-163delinsCTCTG	XP_011541267.1:n.-218-167_-218-163delinsCTCTG
XM_017018169.2:c.1093-167_1093-163delinsCTCTG	XP_016873658.1:n.1093-167_1093-163delinsCTCTG
XM_017018170.2:c.880-167_880-163delinsCTCTG	XP_016873659.1:n.880-167_880-163delinsCTCTG
XM_017018171.1:c.1405-167_1405-163delinsCTCTG	XP_016873660.1:n.1405-167_1405-163delinsCTCTG
NM_003105.6:c.1405-167_1405-163delinsCTCTG MANE Select	NP_003096.2:n.1405-167_1405-163delinsCTCTG