Canonical Allele Identifier: CA2577767444

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582450_50582460del , CM000684.2:g.50582450_50582460del	GRCh38
NC_000022.10:g.51020879_51020889del , CM000684.1:g.51020879_51020889del	GRCh37
NC_000022.9:g.49367745_49367755del	NCBI36
NG_012643.1:g.1209_1219del
NG_029213.1:g.5541_5551del , LRG_855:g.5541_5551del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+99_225-92del (CHKB) MANE Select	ENSP00000384400.3:n.224+99_225-92del
ENST00000406938.2:c.224+99_225-92del (CHKB)	ENSP00000384400.2:n.224+99_225-92del
ENST00000463053.1:n.307-102_307-92del (CHKB)
ENST00000476289.5:n.396_406del (CHKB)
ENST00000479003.5:n.362_372del (CHKB)
ENST00000481673.5:n.288+99_289-92del (CHKB)
ENST00000484266.5:n.366_376del (CHKB)
ENST00000492556.5:n.507_517del (CHKB-CPT1B)
ENST00000492582.5:n.396_406del (CHKB)
NM_005198.4:c.224+99_225-92del , LRG_855t1:c.224+99_225-92del (CHKB)	NP_005189.2:n.224+99_225-92del
NR_027928.2:n.442+99_443-92del (CHKB-CPT1B)
NM_005198.5:c.224+99_225-92del (CHKB) MANE Select	NP_005189.2:n.224+99_225-92del