Canonical Allele Identifier: CA2573053554
Gene: CHKA HGNC NCBI

Linked Data

ClinVar Variation Id: 1325847
dbSNP Id: rs2153034844

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68121165dup , CM000673.2:g.68121165dup GRCh38
NC_000011.9:g.67888632dup , CM000673.1:g.67888632dup GRCh37
NC_000011.8:g.67645208dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265689.9:c.14dup MANE Select ENSP00000265689.4:p.Cys6LeufsTer19
ENST00000265689.8:c.14dup ENSP00000265689.4:p.Cys6LeufsTer19
ENST00000356135.9:c.14dup ENSP00000348454.4:p.Cys6LeufsTer19
NM_001277.2:c.14dup NP_001268.2:p.Cys6LeufsTer19
NM_212469.1:c.14dup NP_997634.1:p.Cys6LeufsTer19
XR_428904.2:n.225dup
XR_949772.1:n.225dup
XR_949773.1:n.225dup
XR_949777.1:n.225dup
XM_017017147.1:c.14dup XP_016872636.1:p.Cys6LeufsTer19
XR_002957119.1:n.226dup
XR_428904.3:n.226dup
XR_949772.2:n.208dup
XR_949773.2:n.226dup
NM_001277.3:c.14dup MANE Select NP_001268.2:p.Cys6LeufsTer19
NM_001376219.1:c.14dup NP_001363148.1:p.Cys6LeufsTer19
NM_001376220.1:c.14dup NP_001363149.1:p.Cys6LeufsTer19
NM_001376221.1:c.-351dup NP_001363150.1:n.-351dup
NM_001376222.1:c.-351dup NP_001363151.1:n.-351dup
NM_212469.2:c.14dup NP_997634.1:p.Cys6LeufsTer19
NR_164782.1:n.225dup