Canonical Allele Identifier: CA1139532804
Gene: KRIT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1804898
ClinVar RCV Id: RCV002471316

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92222819_92222822del , CM000669.2:g.92222819_92222822del GRCh38
NC_000007.13:g.91852133_91852136del , CM000669.1:g.91852133_91852136del GRCh37
NC_000007.12:g.91690069_91690072del NCBI36
NG_012964.1:g.28281_28284del , LRG_650:g.28281_28284del

Transcript Alleles

HGVS Amino-acid change
ENST00000425073.2:c.1411+2_1411+5del
ENST00000433016.6:c.1411+2_1411+5del
ENST00000444960.6:c.1411+2_1411+5del
ENST00000445516.2:c.1411+2_1411+5del
ENST00000454017.6:c.1411+2_1411+5del
ENST00000458177.7:c.1411+2_1411+5del
ENST00000458493.6:c.1411+2_1411+5del
ENST00000475770.6:n.1857+2_1857+5del
ENST00000650585.2:c.1411+2_1411+5del
ENST00000684808.1:c.*918+2_*918+5del
ENST00000685431.1:c.1267+2_1267+5del
ENST00000686043.1:c.*674+2_*674+5del
ENST00000686094.1:c.1411+2_1411+5del
ENST00000686149.1:n.2890+2_2890+5del
ENST00000686233.1:n.1799+2_1799+5del
ENST00000686527.1:c.1411+2_1411+5del
ENST00000686619.1:c.*154_*157del ENSP00000509512.1:n.*154_*157del
ENST00000686785.1:c.*600+2_*600+5del
ENST00000687135.1:c.1411+2_1411+5del
ENST00000687627.1:n.1901+2_1901+5del
ENST00000687876.1:c.*918+2_*918+5del
ENST00000688180.1:n.440+2_440+5del
ENST00000688196.1:n.1771+2_1771+5del
ENST00000688314.1:c.*674+2_*674+5del
ENST00000688404.1:c.1411+2_1411+5del
ENST00000688580.1:n.1516_1519del
ENST00000688665.1:c.1411+2_1411+5del
ENST00000688766.1:n.2520_2523del
ENST00000688781.1:c.*1221+2_*1221+5del
ENST00000689082.1:n.2233+2_2233+5del
ENST00000689411.1:n.3346+2_3346+5del
ENST00000689539.1:c.1411+2_1411+5del
ENST00000689556.1:c.1267+2_1267+5del
ENST00000689778.1:n.1952_1955del
ENST00000690292.1:c.*1046+2_*1046+5del
ENST00000690529.1:c.1411+2_1411+5del
ENST00000690720.1:c.1411+2_1411+5del
ENST00000690751.1:c.*774+2_*774+5del
ENST00000690904.1:n.2367+2_2367+5del
ENST00000690908.1:c.1267+2_1267+5del
ENST00000691239.1:c.*585+2_*585+5del
ENST00000691827.1:c.*1221+2_*1221+5del
ENST00000691972.1:c.1411+2_1411+5del
ENST00000692000.1:n.2554+2_2554+5del
ENST00000692157.1:c.1411+2_1411+5del
ENST00000692205.1:n.1788+2_1788+5del
ENST00000692281.1:c.1411+2_1411+5del
ENST00000692361.1:n.1790_1793del
ENST00000692690.1:c.*918+2_*918+5del
ENST00000692807.1:c.1411+2_1411+5del
ENST00000693096.1:n.3667+2_3667+5del
ENST00000693563.1:c.*674+2_*674+5del
ENST00000394505.7:c.1411+2_1411+5del
ENST00000458177.6:c.1411+2_1411+5del
ENST00000650585.1:c.1411+2_1411+5del
ENST00000340022.6:c.1411+2_1411+5del
ENST00000394503.6:c.1267+2_1267+5del
ENST00000394505.6:c.1411+2_1411+5del
ENST00000394507.5:c.1411+2_1411+5del
ENST00000412043.6:c.1411+2_1411+5del
ENST00000475770.5:n.1053+2_1053+5del
ENST00000486261.5:n.1934+2_1934+5del
ENST00000611677.4:c.1411+2_1411+5del
NM_001013406.1:c.1267+2_1267+5del
NM_004912.3:c.1411+2_1411+5del
NM_194454.1:c.1411+2_1411+5del
NM_194455.1:c.1411+2_1411+5del
NM_194456.1:c.1411+2_1411+5del , LRG_650t1:c.1411+2_1411+5del
XM_005250660.2:c.1411+2_1411+5del
XM_005250662.2:c.1411+2_1411+5del
XM_005250664.2:c.1411+2_1411+5del
XM_005250665.2:c.1411+2_1411+5del
XM_005250666.2:c.1411+2_1411+5del
XM_005250667.2:c.1411+2_1411+5del
XM_005250668.2:c.1411+2_1411+5del
XM_005250669.2:c.1411+2_1411+5del
XM_006716160.2:c.1411+2_1411+5del
XM_006716161.2:c.1411+2_1411+5del
XM_006716162.2:c.1411+2_1411+5del
XM_006716163.2:c.1411+2_1411+5del
XM_011516651.1:c.1411+2_1411+5del
XM_011516652.1:c.1411+2_1411+5del
XM_011516653.1:c.1411+2_1411+5del
XM_011516654.1:c.1411+2_1411+5del
XM_011516655.1:c.1411+2_1411+5del
XM_011516656.1:c.1411+2_1411+5del
XM_011516657.1:c.1411+2_1411+5del
XM_011516658.1:c.1411+2_1411+5del
XM_011516659.1:c.1411+2_1411+5del
XM_011516660.1:c.1411+2_1411+5del
XM_011516661.1:c.1411+2_1411+5del
NM_001013406.2:c.1267+2_1267+5del
NM_001350669.1:c.1267+2_1267+5del
NM_001350670.1:c.1267+2_1267+5del
NM_001350671.1:c.697+2_697+5del
NM_001350672.1:c.1411+2_1411+5del
NM_001350673.1:c.1411+2_1411+5del
NM_001350674.1:c.1411+2_1411+5del
NM_001350675.1:c.1411+2_1411+5del
NM_001350676.1:c.1411+2_1411+5del
NM_001350677.1:c.1411+2_1411+5del
NM_001350678.1:c.1411+2_1411+5del
NM_001350679.1:c.1411+2_1411+5del
NM_001350680.1:c.1411+2_1411+5del
NM_001350681.1:c.1411+2_1411+5del
NM_001350682.1:c.1411+2_1411+5del
NM_001350683.1:c.1411+2_1411+5del
NM_001350684.1:c.1411+2_1411+5del
NM_001350685.1:c.1411+2_1411+5del
NM_001350686.1:c.1411+2_1411+5del
NM_001350687.1:c.1411+2_1411+5del
NM_001350688.1:c.1411+2_1411+5del
NM_001350689.1:c.1411+2_1411+5del
NM_001350690.1:c.1411+2_1411+5del
NM_001350691.1:c.1411+2_1411+5del
NM_001350692.1:c.1411+2_1411+5del
NM_001350693.1:c.1411+2_1411+5del
NM_001350694.1:c.1411+2_1411+5del
NM_001350695.1:c.1411+2_1411+5del
NM_001350696.1:c.1411+2_1411+5del
NM_001350697.1:c.1411+2_1411+5del
NM_004912.4:c.1411+2_1411+5del
NM_194454.2:c.1411+2_1411+5del
XM_005250666.4:c.1411+2_1411+5del
XM_006716162.4:c.1411+2_1411+5del
XM_011516651.3:c.1411+2_1411+5del
XM_011516654.3:c.1411+2_1411+5del
XM_011516655.3:c.1411+2_1411+5del
XM_011516658.3:c.1411+2_1411+5del
XM_011516659.3:c.1411+2_1411+5del
XM_011516660.3:c.1411+2_1411+5del
XM_017012758.2:c.697+2_697+5del
XM_024446982.1:c.1411+2_1411+5del
XM_024446983.1:c.1411+2_1411+5del
XM_024446984.1:c.574+2_574+5del
NM_194454.3:c.1411+2_1411+5del