Canonical Allele Identifier: CA2410935904
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50581550_50581555delinsGACTCT , CM000684.2:g.50581550_50581555delinsGACTCT GRCh38
NC_000022.10:g.51019979_51019984delinsGACTCT , CM000684.1:g.51019979_51019984delinsGACTCT GRCh37
NC_000022.9:g.49366845_49366850delinsGACTCT NCBI36
NG_012643.1:g.2113_2118delinsAGAGTC
NG_029213.1:g.6445_6450delinsAGAGTC , LRG_855:g.6445_6450delinsAGAGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.448-2_451delinsAGAGTC (CHKB)
ENST00000406938.2:c.448-2_451delinsAGAGTC (CHKB)
ENST00000463053.1:n.597-2_600delinsAGAGTC (CHKB)
ENST00000468532.5:n.325-2_328delinsAGAGTC (CHKB)
ENST00000476289.5:n.721-2_724delinsAGAGTC (CHKB)
ENST00000479003.5:n.1073-2_1076delinsAGAGTC (CHKB)
ENST00000481673.5:n.898-2_901delinsAGAGTC (CHKB)
ENST00000484266.5:n.576+694_576+699delinsAGAGTC (CHKB)
ENST00000492556.5:n.1218-2_1221delinsAGAGTC (CHKB-CPT1B)
ENST00000492582.5:n.1107-2_1110delinsAGAGTC (CHKB)
NM_005198.4:c.448-2_451delinsAGAGTC , LRG_855t1:c.448-2_451delinsAGAGTC (CHKB)
NR_027928.2:n.666-2_669delinsAGAGTC (CHKB-CPT1B)
NM_005198.5:c.448-2_451delinsAGAGTC (CHKB)
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