Canonical Allele Identifier: CA615003661

Gene: PSEN1

Linked Data

• dbSNP Id: rs1413734297
• gnomAD v2: 14-73685584-TATTTTC-T
• gnomAD v3: 14-73218876-TATTTTC-T
• gnomAD v4: 14-73218876-TATTTTC-T
• MyVariant Identifiers: chr14:g.73685585_73685590del (hg19) ; chr14:g.73218877_73218882del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73218878_73218883del , CM000676.2:g.73218878_73218883del	GRCh38
NC_000014.8:g.73685586_73685591del , CM000676.1:g.73685586_73685591del	GRCh37
NC_000014.7:g.72755339_72755344del	NCBI36
NG_007386.2:g.87408_87413del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553599.6:c.1237-256_1237-251del	ENSP00000452477.2:n.1237-256_1237-251del
ENST00000554131.6:c.1249-256_1249-251del	ENSP00000451915.2:n.1249-256_1249-251del
ENST00000554995.2:n.1999-256_1999-251del
ENST00000555386.6:c.*204-256_*204-251del	ENSP00000450845.1:n.*204-256_*204-251del
ENST00000556066.2:n.1675-256_1675-251del
ENST00000556951.6:c.1237-256_1237-251del	ENSP00000450551.2:n.1237-256_1237-251del
ENST00000557293.6:c.1129-256_1129-251del	ENSP00000451880.2:n.1129-256_1129-251del
ENST00000559361.6:c.*1193-256_*1193-251del	ENSP00000454156.1:n.*1193-256_*1193-251del
ENST00000697912.1:c.*437-256_*437-251del	ENSP00000513477.1:n.*437-256_*437-251del
ENST00000697913.1:n.6799-256_6799-251del
ENST00000697915.1:n.606-256_606-251del
ENST00000700265.1:c.1237-256_1237-251del	ENSP00000514901.1:n.1237-256_1237-251del
ENST00000700266.1:c.*1461-256_*1461-251del	ENSP00000514902.1:n.*1461-256_*1461-251del
ENST00000700267.1:c.1249-256_1249-251del	ENSP00000514903.1:n.1249-256_1249-251del
ENST00000700268.1:c.1249-256_1249-251del	ENSP00000514904.1:n.1249-256_1249-251del
ENST00000700269.1:c.1249-256_1249-251del	ENSP00000514905.1:n.1249-256_1249-251del
ENST00000700271.1:c.1063-256_1063-251del	ENSP00000514906.1:n.1063-256_1063-251del
ENST00000700272.1:c.*1193-256_*1193-251del	ENSP00000514907.1:n.*1193-256_*1193-251del
ENST00000700273.1:c.1237-256_1237-251del	ENSP00000514908.1:n.1237-256_1237-251del
ENST00000700302.1:c.*65-256_*65-251del	ENSP00000514929.1:n.*65-256_*65-251del
ENST00000700303.1:c.*911-256_*911-251del	ENSP00000514930.1:n.*911-256_*911-251del
ENST00000700304.1:c.*1193-256_*1193-251del	ENSP00000514931.1:n.*1193-256_*1193-251del
ENST00000700305.1:c.*807-256_*807-251del	ENSP00000514932.1:n.*807-256_*807-251del
ENST00000700306.1:c.1249-256_1249-251del	ENSP00000514933.1:n.1249-256_1249-251del
ENST00000700307.1:c.1150-256_1150-251del	ENSP00000514934.1:n.1150-256_1150-251del
ENST00000700308.1:c.*1193-256_*1193-251del	ENSP00000514935.1:n.*1193-256_*1193-251del
ENST00000700309.1:c.*1338-256_*1338-251del	ENSP00000514936.1:n.*1338-256_*1338-251del
ENST00000700310.1:c.*204-256_*204-251del	ENSP00000514937.1:n.*204-256_*204-251del
ENST00000700311.1:c.*65-256_*65-251del	ENSP00000514938.1:n.*65-256_*65-251del
ENST00000700312.1:c.1000-256_1000-251del	ENSP00000514939.1:n.1000-256_1000-251del
ENST00000700313.1:c.1237-256_1237-251del	ENSP00000514940.1:n.1237-256_1237-251del
ENST00000700314.1:c.*1188-256_*1188-251del	ENSP00000514941.1:n.*1188-256_*1188-251del
ENST00000700315.1:c.*807-256_*807-251del	ENSP00000514942.1:n.*807-256_*807-251del
ENST00000700316.1:c.*1029-256_*1029-251del	ENSP00000514943.1:n.*1029-256_*1029-251del
ENST00000700317.1:c.1249-256_1249-251del	ENSP00000514944.1:n.1249-256_1249-251del
ENST00000700318.1:c.*911-256_*911-251del	ENSP00000514945.1:n.*911-256_*911-251del
ENST00000700319.1:c.*689-256_*689-251del	ENSP00000514946.1:n.*689-256_*689-251del
ENST00000700320.1:c.1276-256_1276-251del	ENSP00000514947.1:n.1276-256_1276-251del
ENST00000700321.1:c.1249-256_1249-251del	ENSP00000514948.1:n.1249-256_1249-251del
ENST00000700322.1:c.1237-256_1237-251del	ENSP00000514949.1:n.1237-256_1237-251del
ENST00000700323.1:c.1249-256_1249-251del	ENSP00000514950.1:n.1249-256_1249-251del
ENST00000700324.1:c.1237-256_1237-251del	ENSP00000514951.1:n.1237-256_1237-251del
ENST00000700375.1:c.1249-256_1249-251del	ENSP00000514966.1:n.1249-256_1249-251del
ENST00000700377.1:c.*717-256_*717-251del	ENSP00000514967.1:n.*717-256_*717-251del
ENST00000700378.1:c.1249-256_1249-251del	ENSP00000514968.1:n.1249-256_1249-251del
ENST00000700379.1:n.1647-256_1647-251del
ENST00000700389.1:c.1237-256_1237-251del	ENSP00000514970.1:n.1237-256_1237-251del
ENST00000700390.1:n.2960-256_2960-251del
ENST00000700391.1:n.460-256_460-251del
ENST00000700404.1:n.2248-256_2248-251del
ENST00000700436.1:c.*204-256_*204-251del	ENSP00000514987.1:n.*204-256_*204-251del
ENST00000700437.1:c.1000-256_1000-251del	ENSP00000514988.1:n.1000-256_1000-251del
ENST00000700468.1:c.1138-256_1138-251del	ENSP00000515001.1:n.1138-256_1138-251del
ENST00000700469.1:c.1237-256_1237-251del	ENSP00000515002.1:n.1237-256_1237-251del
ENST00000324501.10:c.1249-256_1249-251del MANE Select	ENSP00000326366.5:n.1249-256_1249-251del
ENST00000324501.9:c.1249-256_1249-251del	ENSP00000326366.5:n.1249-256_1249-251del
ENST00000357710.8:c.1237-256_1237-251del	ENSP00000350342.4:n.1237-256_1237-251del
ENST00000394164.5:c.1237-256_1237-251del	ENSP00000377719.1:n.1237-256_1237-251del
ENST00000406768.1:c.973-256_973-251del	ENSP00000385948.1:n.973-256_973-251del
ENST00000555386.5:c.1329-256_1329-251del	ENSP00000450845.1:n.1329-256_1329-251del
ENST00000555867.1:n.614-256_614-251del
ENST00000557511.5:c.1075-256_1075-251del	ENSP00000451429.1:n.1075-256_1075-251del
NM_000021.3:c.1249-256_1249-251del	NP_000012.1:n.1249-256_1249-251del
NM_007318.2:c.1237-256_1237-251del	NP_015557.2:n.1237-256_1237-251del
XM_005267864.1:c.1249-256_1249-251del	XP_005267921.1:n.1249-256_1249-251del
XM_005267866.1:c.1237-256_1237-251del	XP_005267923.1:n.1237-256_1237-251del
XM_011536971.1:c.1249-256_1249-251del	XP_011535273.1:n.1249-256_1249-251del
XM_011536972.1:c.1249-256_1249-251del	XP_011535274.1:n.1249-256_1249-251del
XM_011536973.1:c.1237-256_1237-251del	XP_011535275.1:n.1237-256_1237-251del
XM_011536974.1:c.1237-256_1237-251del	XP_011535276.1:n.1237-256_1237-251del
XM_005267864.3:c.1249-256_1249-251del	XP_005267921.1:n.1249-256_1249-251del
XM_005267866.2:c.1237-256_1237-251del	XP_005267923.1:n.1237-256_1237-251del
XM_011536972.2:c.1249-256_1249-251del	XP_011535274.1:n.1249-256_1249-251del
XM_011536973.2:c.1237-256_1237-251del	XP_011535275.1:n.1237-256_1237-251del
XM_011536974.2:c.1237-256_1237-251del	XP_011535276.1:n.1237-256_1237-251del
NM_000021.4:c.1249-256_1249-251del MANE Select	NP_000012.1:n.1249-256_1249-251del
NM_007318.3:c.1237-256_1237-251del	NP_015557.2:n.1237-256_1237-251del