Canonical Allele Identifier: CA2410936145
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582020_50582043delinsGGGTCTCACTATGTTGTCCAGGCT , CM000684.2:g.50582020_50582043delinsGGGTCTCACTATGTTGTCCAGGCT GRCh38
NC_000022.10:g.51020449_51020472delinsGGGTCTCACTATGTTGTCCAGGCT , CM000684.1:g.51020449_51020472delinsGGGTCTCACTATGTTGTCCAGGCT GRCh37
NC_000022.9:g.49367315_49367338delinsGGGTCTCACTATGTTGTCCAGGCT NCBI36
NG_012643.1:g.1625_1648delinsAGCCTGGACAACATAGTGAGACCC
NG_029213.1:g.5957_5980delinsAGCCTGGACAACATAGTGAGACCC , LRG_855:g.5957_5980delinsAGCCTGGACAACATAGTGAGACCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.334-181_334-158delinsAGCCTGGACAACATAGTGAGACCC (CHKB) MANE Select ENSP00000384400.3:n.334-181_334-158delinsAGCCTGGACAACATAGTGAG...
ENST00000406938.2:c.334-181_334-158delinsAGCCTGGACAACATAGTGAGACCC (CHKB) ENSP00000384400.2:n.334-181_334-158delinsAGCCTGGACAACATAGTGAG...
ENST00000463053.1:n.468_482+9delinsAGCCTGGACAACATAGTGAGACCC (CHKB)
ENST00000465842.1:n.173-181_173-158delinsAGCCTGGACAACATAGTGAGACCC (CHKB)
ENST00000468532.5:n.211-181_211-158delinsAGCCTGGACAACATAGTGAGACCC (CHKB)
ENST00000476289.5:n.607-181_607-158delinsAGCCTGGACAACATAGTGAGACCC (CHKB)
ENST00000479003.5:n.778_801delinsAGCCTGGACAACATAGTGAGACCC (CHKB)
ENST00000481673.5:n.603_626delinsAGCCTGGACAACATAGTGAGACCC (CHKB)
ENST00000484266.5:n.576+206_576+229delinsAGCCTGGACAACATAGTGAGACCC (CHKB)
ENST00000492556.5:n.923_946delinsAGCCTGGACAACATAGTGAGACCC (CHKB-CPT1B)
ENST00000492582.5:n.812_835delinsAGCCTGGACAACATAGTGAGACCC (CHKB)
NM_005198.4:c.334-181_334-158delinsAGCCTGGACAACATAGTGAGACCC , LRG_855t1:c.334-181_334-158delinsAGCCTGGACAACATAGTGAGACCC (CHKB) NP_005189.2:n.334-181_334-158delinsAGCCTGGACAACATAGTGAGACCC
NR_027928.2:n.552-181_552-158delinsAGCCTGGACAACATAGTGAGACCC (CHKB-CPT1B)
NM_005198.5:c.334-181_334-158delinsAGCCTGGACAACATAGTGAGACCC (CHKB) MANE Select NP_005189.2:n.334-181_334-158delinsAGCCTGGACAACATAGTGAGACCC