Canonical Allele Identifier: CA2625561111

Gene: PSEN1

Linked Data

• gnomAD v4: 14-73211938-G-GGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73211939_73211941dup , CM000676.2:g.73211939_73211941dup	GRCh38
NC_000014.8:g.73678647_73678649dup , CM000676.1:g.73678647_73678649dup	GRCh37
NC_000014.7:g.72748400_72748402dup	NCBI36
NG_007386.2:g.80469_80471dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553599.6:c.1114_1116dup	ENSP00000452477.2:p.Glu372_Arg373insGlu
ENST00000554131.6:c.1126_1128dup	ENSP00000451915.2:p.Glu376_Arg377insGlu
ENST00000554995.2:n.1876_1878dup
ENST00000555386.6:c.*81_*83dup	ENSP00000450845.1:n.*81_*83dup
ENST00000556066.2:n.1552_1554dup
ENST00000556951.6:c.1114_1116dup	ENSP00000450551.2:p.Glu372_Arg373insGlu
ENST00000557293.6:c.1006_1008dup	ENSP00000451880.2:p.Glu336_Arg337insGlu
ENST00000559361.6:c.*1070_*1072dup	ENSP00000454156.1:n.*1070_*1072dup
ENST00000697912.1:c.1114_1116dup	ENSP00000513477.1:p.Glu372_Ser373insGlu
ENST00000697913.1:n.6676_6678dup
ENST00000700265.1:c.1114_1116dup	ENSP00000514901.1:p.Glu372_Arg373insGlu
ENST00000700266.1:c.*1338_*1340dup	ENSP00000514902.1:n.*1338_*1340dup
ENST00000700267.1:c.1126_1128dup	ENSP00000514903.1:p.Glu376_Arg377insGlu
ENST00000700268.1:c.1126_1128dup	ENSP00000514904.1:p.Glu376_Arg377insGlu
ENST00000700269.1:c.1126_1128dup	ENSP00000514905.1:p.Glu376_Arg377insGlu
ENST00000700271.1:c.944-5187_944-5185dup	ENSP00000514906.1:n.944-5187_944-5185dup
ENST00000700272.1:c.*1070_*1072dup	ENSP00000514907.1:n.*1070_*1072dup
ENST00000700273.1:c.1114_1116dup	ENSP00000514908.1:p.Glu372_Arg373insGlu
ENST00000700302.1:c.1126_1128dup	ENSP00000514929.1:p.Glu376_Ser377insGlu
ENST00000700303.1:c.*788_*790dup	ENSP00000514930.1:n.*788_*790dup
ENST00000700304.1:c.*1070_*1072dup	ENSP00000514931.1:n.*1070_*1072dup
ENST00000700305.1:c.*684_*686dup	ENSP00000514932.1:n.*684_*686dup
ENST00000700306.1:c.1126_1128dup	ENSP00000514933.1:p.Glu376_Arg377insGlu
ENST00000700307.1:c.1027_1029dup	ENSP00000514934.1:p.Glu343_Arg344insGlu
ENST00000700308.1:c.*1070_*1072dup	ENSP00000514935.1:n.*1070_*1072dup
ENST00000700309.1:c.*1215_*1217dup	ENSP00000514936.1:n.*1215_*1217dup
ENST00000700310.1:c.*81_*83dup	ENSP00000514937.1:n.*81_*83dup
ENST00000700311.1:c.1126_1128dup	ENSP00000514938.1:p.Glu376_Ser377insGlu
ENST00000700312.1:c.877_879dup	ENSP00000514939.1:p.Glu293_Arg294insGlu
ENST00000700313.1:c.1114_1116dup	ENSP00000514940.1:p.Glu372_Arg373insGlu
ENST00000700314.1:c.*1065_*1067dup	ENSP00000514941.1:n.*1065_*1067dup
ENST00000700315.1:c.*684_*686dup	ENSP00000514942.1:n.*684_*686dup
ENST00000700316.1:c.*906_*908dup	ENSP00000514943.1:n.*906_*908dup
ENST00000700317.1:c.1126_1128dup	ENSP00000514944.1:p.Glu376_Arg377insGlu
ENST00000700318.1:c.*788_*790dup	ENSP00000514945.1:n.*788_*790dup
ENST00000700319.1:c.*566_*568dup	ENSP00000514946.1:n.*566_*568dup
ENST00000700320.1:c.1153_1155dup	ENSP00000514947.1:p.Glu385_Arg386insGlu
ENST00000700321.1:c.1126_1128dup	ENSP00000514948.1:p.Glu376_Arg377insGlu
ENST00000700322.1:c.1114_1116dup	ENSP00000514949.1:p.Glu372_Arg373insGlu
ENST00000700323.1:c.1126_1128dup	ENSP00000514950.1:p.Glu376_Arg377insGlu
ENST00000700324.1:c.1114_1116dup	ENSP00000514951.1:p.Glu372_Arg373insGlu
ENST00000700375.1:c.1126_1128dup	ENSP00000514966.1:p.Glu376_Arg377insGlu
ENST00000700377.1:c.*594_*596dup	ENSP00000514967.1:n.*594_*596dup
ENST00000700378.1:c.1126_1128dup	ENSP00000514968.1:p.Glu376_Arg377insGlu
ENST00000700379.1:n.1524_1526dup
ENST00000700389.1:c.1114_1116dup	ENSP00000514970.1:p.Glu372_Arg373insGlu
ENST00000700390.1:n.2837_2839dup
ENST00000700391.1:n.337_339dup
ENST00000700404.1:n.2125_2127dup
ENST00000700435.1:n.1261_1263dup
ENST00000700436.1:c.*81_*83dup	ENSP00000514987.1:n.*81_*83dup
ENST00000700437.1:c.877_879dup	ENSP00000514988.1:p.Glu293_Arg294insGlu
ENST00000700468.1:c.1015_1017dup	ENSP00000515001.1:p.Glu339_Arg340insGlu
ENST00000700469.1:c.1114_1116dup	ENSP00000515002.1:p.Glu372_Arg373insGlu
ENST00000324501.10:c.1126_1128dup MANE Select	ENSP00000326366.5:p.Glu376_Arg377insGlu
ENST00000324501.9:c.1126_1128dup	ENSP00000326366.5:p.Glu376_Arg377insGlu
ENST00000357710.8:c.1114_1116dup	ENSP00000350342.4:p.Glu372_Arg373insGlu
ENST00000394164.5:c.1114_1116dup	ENSP00000377719.1:p.Glu372_Arg373insGlu
ENST00000406768.1:c.850_852dup	ENSP00000385948.1:p.Glu284_Arg285insGlu
ENST00000553855.5:c.1218_1220dup	ENSP00000452242.1:n.1218_1220dup
ENST00000555386.5:c.1206_1208dup	ENSP00000450845.1:n.1206_1208dup
ENST00000555867.1:n.491_493dup
ENST00000557511.5:c.956-5187_956-5185dup	ENSP00000451429.1:n.956-5187_956-5185dup
NM_000021.3:c.1126_1128dup	NP_000012.1:p.Glu376_Arg377insGlu
NM_007318.2:c.1114_1116dup	NP_015557.2:p.Glu372_Arg373insGlu
XM_005267864.1:c.1126_1128dup	XP_005267921.1:p.Glu376_Arg377insGlu
XM_005267866.1:c.1114_1116dup	XP_005267923.1:p.Glu372_Arg373insGlu
XM_011536971.1:c.1126_1128dup	XP_011535273.1:p.Glu376_Arg377insGlu
XM_011536972.1:c.1126_1128dup	XP_011535274.1:p.Glu376_Arg377insGlu
XM_011536973.1:c.1114_1116dup	XP_011535275.1:p.Glu372_Arg373insGlu
XM_011536974.1:c.1114_1116dup	XP_011535276.1:p.Glu372_Arg373insGlu
XM_005267864.3:c.1126_1128dup	XP_005267921.1:p.Glu376_Arg377insGlu
XM_005267866.2:c.1114_1116dup	XP_005267923.1:p.Glu372_Arg373insGlu
XM_011536972.2:c.1126_1128dup	XP_011535274.1:p.Glu376_Arg377insGlu
XM_011536973.2:c.1114_1116dup	XP_011535275.1:p.Glu372_Arg373insGlu
XM_011536974.2:c.1114_1116dup	XP_011535276.1:p.Glu372_Arg373insGlu
NM_000021.4:c.1126_1128dup MANE Select	NP_000012.1:p.Glu376_Arg377insGlu
NM_007318.3:c.1114_1116dup	NP_015557.2:p.Glu372_Arg373insGlu