Canonical Allele Identifier: CA2004949816

Gene: SORL1

Linked Data

• dbSNP Id: rs1863031928

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121582809_121582810del , CM000673.2:g.121582809_121582810del	GRCh38
NC_000011.9:g.121453518_121453519del , CM000673.1:g.121453518_121453519del	GRCh37
NC_000011.8:g.120958728_120958729del	NCBI36
NG_023313.1:g.135558_135559del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3581-649_3581-648del MANE Select	ENSP00000260197.6:n.3581-649_3581-648del
ENST00000260197.11:c.3581-649_3581-648del	ENSP00000260197.6:n.3581-649_3581-648del
ENST00000525532.5:c.413-649_413-648del	ENSP00000434634.1:n.413-649_413-648del
ENST00000532694.5:c.119-649_119-648del	ENSP00000432131.1:n.119-649_119-648del
ENST00000534286.5:c.311-649_311-648del	ENSP00000436447.1:n.311-649_311-648del
NM_003105.5:c.3581-649_3581-648del	NP_003096.1:n.3581-649_3581-648del
XM_011542963.1:c.3467-649_3467-648del	XP_011541265.1:n.3467-649_3467-648del
XM_011542964.1:c.3581-649_3581-648del	XP_011541266.1:n.3581-649_3581-648del
XM_011542965.1:c.2042-649_2042-648del	XP_011541267.1:n.2042-649_2042-648del
XM_011542966.1:c.941-649_941-648del	XP_011541268.1:n.941-649_941-648del
XM_011542967.1:c.413-649_413-648del	XP_011541269.1:n.413-649_413-648del
XM_011542963.3:c.3467-649_3467-648del	XP_011541265.1:n.3467-649_3467-648del
XM_011542965.3:c.2042-649_2042-648del	XP_011541267.1:n.2042-649_2042-648del
XM_011542967.3:c.413-649_413-648del	XP_011541269.1:n.413-649_413-648del
XM_017018169.2:c.3269-649_3269-648del	XP_016873658.1:n.3269-649_3269-648del
XM_017018170.2:c.3056-649_3056-648del	XP_016873659.1:n.3056-649_3056-648del
XM_017018171.1:c.3581-649_3581-648del	XP_016873660.1:n.3581-649_3581-648del
XM_017018172.2:c.941-649_941-648del	XP_016873661.1:n.941-649_941-648del
NM_003105.6:c.3581-649_3581-648del MANE Select	NP_003096.2:n.3581-649_3581-648del