Canonical Allele Identifier: CA2625553514
Gene: PSEN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73136536_73136537insCC , CM000676.2:g.73136536_73136537insCC GRCh38
NC_000014.8:g.73603244_73603245insCC , CM000676.1:g.73603244_73603245insCC GRCh37
NC_000014.7:g.72672997_72672998insCC NCBI36
NG_007386.2:g.5066_5067insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553447.7:c.-220_-219insCC ENSP00000514869.1:n.-220_-219insCC
ENST00000553599.6:c.-225_-224insCC ENSP00000452477.2:n.-225_-224insCC
ENST00000554131.6:c.-224_-223insCC ENSP00000451915.2:n.-224_-223insCC
ENST00000555386.6:c.-183_-182insCC ENSP00000450845.1:n.-183_-182insCC
ENST00000556011.6:c.-225_-224insCC ENSP00000451662.2:n.-225_-224insCC
ENST00000556951.6:c.-179_-178insCC ENSP00000450551.2:n.-179_-178insCC
ENST00000557293.6:c.-179_-178insCC ENSP00000451880.2:n.-179_-178insCC
ENST00000559361.6:c.-179_-178insCC ENSP00000454156.1:n.-179_-178insCC
ENST00000697912.1:c.-183_-182insCC ENSP00000513477.1:n.-183_-182insCC
ENST00000697913.1:n.72_73insCC
ENST00000697914.1:n.30_31insCC
ENST00000700265.1:c.-104+88_-104+89insCC ENSP00000514901.1:n.-104+88_-104+89insCC
ENST00000700266.1:c.-183_-182insCC ENSP00000514902.1:n.-183_-182insCC
ENST00000700267.1:c.-136+88_-136+89insCC ENSP00000514903.1:n.-136+88_-136+89insCC
ENST00000700268.1:c.-179_-178insCC ENSP00000514904.1:n.-179_-178insCC
ENST00000700269.1:c.-225_-224insCC ENSP00000514905.1:n.-225_-224insCC
ENST00000700270.1:n.86_87insCC
ENST00000700271.1:c.-183_-182insCC ENSP00000514906.1:n.-183_-182insCC
ENST00000700272.1:c.-179_-178insCC ENSP00000514907.1:n.-179_-178insCC
ENST00000700273.1:c.-225_-224insCC ENSP00000514908.1:n.-225_-224insCC
ENST00000700302.1:c.-183_-182insCC ENSP00000514929.1:n.-183_-182insCC
ENST00000700303.1:c.-183_-182insCC ENSP00000514930.1:n.-183_-182insCC
ENST00000700304.1:c.-183_-182insCC ENSP00000514931.1:n.-183_-182insCC
ENST00000700305.1:c.-183_-182insCC ENSP00000514932.1:n.-183_-182insCC
ENST00000700306.1:c.-225_-224insCC ENSP00000514933.1:n.-225_-224insCC
ENST00000700307.1:c.-183_-182insCC ENSP00000514934.1:n.-183_-182insCC
ENST00000700308.1:c.-183_-182insCC ENSP00000514935.1:n.-183_-182insCC
ENST00000700309.1:c.-183_-182insCC ENSP00000514936.1:n.-183_-182insCC
ENST00000700310.1:c.-183_-182insCC ENSP00000514937.1:n.-183_-182insCC
ENST00000700311.1:c.-224_-223insCC ENSP00000514938.1:n.-224_-223insCC
ENST00000700312.1:c.-332_-331insCC ENSP00000514939.1:n.-332_-331insCC
ENST00000700313.1:c.-220_-219insCC ENSP00000514940.1:n.-220_-219insCC
ENST00000700314.1:c.-183_-182insCC ENSP00000514941.1:n.-183_-182insCC
ENST00000700315.1:c.-183_-182insCC ENSP00000514942.1:n.-183_-182insCC
ENST00000700316.1:c.-183_-182insCC ENSP00000514943.1:n.-183_-182insCC
ENST00000700317.1:c.-151_-150insCC ENSP00000514944.1:n.-151_-150insCC
ENST00000700318.1:c.-183_-182insCC ENSP00000514945.1:n.-183_-182insCC
ENST00000700319.1:c.-183_-182insCC ENSP00000514946.1:n.-183_-182insCC
ENST00000700320.1:c.-183_-182insCC ENSP00000514947.1:n.-183_-182insCC
ENST00000700321.1:c.-185_-184insCC ENSP00000514948.1:n.-185_-184insCC
ENST00000700322.1:c.-151_-150insCC ENSP00000514949.1:n.-151_-150insCC
ENST00000700323.1:c.-229_-228insCC ENSP00000514950.1:n.-229_-228insCC
ENST00000700324.1:c.-224_-223insCC ENSP00000514951.1:n.-224_-223insCC
ENST00000700374.1:n.76_77insCC
ENST00000700388.1:n.65_66insCC
ENST00000700389.1:c.-348_-347insCC ENSP00000514970.1:n.-348_-347insCC
ENST00000324501.10:c.-183_-182insCC MANE Select ENSP00000326366.5:n.-183_-182insCC
ENST00000324501.9:c.-183_-182insCC ENSP00000326366.5:n.-183_-182insCC
ENST00000357710.8:c.-183_-182insCC ENSP00000350342.4:n.-183_-182insCC
ENST00000394157.7:c.-183_-182insCC ENSP00000377712.3:n.-183_-182insCC
ENST00000553447.6:n.60_61insCC
ENST00000553599.5:c.-225_-224insCC ENSP00000452477.1:n.-225_-224insCC
ENST00000553719.5:c.-179_-178insCC ENSP00000451674.1:n.-179_-178insCC
ENST00000554131.5:c.-224_-223insCC ENSP00000451915.1:n.-224_-223insCC
ENST00000555254.5:c.-207_-206insCC ENSP00000450652.1:n.-207_-206insCC
ENST00000556011.5:c.-225_-224insCC ENSP00000451662.1:n.-225_-224insCC
ENST00000556533.5:c.-172_-171insCC ENSP00000452128.1:n.-172_-171insCC
ENST00000556864.5:c.-282_-281insCC ENSP00000451588.1:n.-282_-281insCC
ENST00000556951.5:c.-179_-178insCC ENSP00000450551.1:n.-179_-178insCC
ENST00000557293.5:c.-179_-178insCC ENSP00000451880.1:n.-179_-178insCC
ENST00000557356.5:c.-136+88_-136+89insCC ENSP00000451498.1:n.-136+88_-136+89insCC
ENST00000559361.5:c.-179_-178insCC ENSP00000454156.1:n.-179_-178insCC
ENST00000560005.6:c.-285_-284insCC ENSP00000453466.1:n.-285_-284insCC
NM_000021.3:c.-183_-182insCC NP_000012.1:n.-183_-182insCC
NM_007318.2:c.-183_-182insCC NP_015557.2:n.-183_-182insCC
XM_005267864.1:c.-179_-178insCC XP_005267921.1:n.-179_-178insCC
XM_005267866.1:c.-179_-178insCC XP_005267923.1:n.-179_-178insCC
XM_005267864.3:c.-179_-178insCC XP_005267921.1:n.-179_-178insCC
XM_005267866.2:c.-179_-178insCC XP_005267923.1:n.-179_-178insCC
NM_000021.4:c.-183_-182insCC MANE Select NP_000012.1:n.-183_-182insCC
NM_007318.3:c.-183_-182insCC NP_015557.2:n.-183_-182insCC