Canonical Allele Identifier: CA10323847

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs746555609
• ExAC: 22:51020836 GCGGCCCCGGCCCCCTCCCGGCCAGGC / G
• gnomAD v2: 22-51020836-GCGGCCCCGGCCCCCTCCCGGCCAGGC-G
• gnomAD v3: 22-50582407-GCGGCCCCGGCCCCCTCCCGGCCAGGC-G
• gnomAD v4: 22-50582407-GCGGCCCCGGCCCCCTCCCGGCCAGGC-G
• MyVariant Identifiers: chr22:g.51020837_51020862del (hg19) ; chr22:g.50582408_50582433del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582416_50582441del , CM000684.2:g.50582416_50582441del	GRCh38
NC_000022.10:g.51020845_51020870del , CM000684.1:g.51020845_51020870del	GRCh37
NC_000022.9:g.49367711_49367736del	NCBI36
NG_012643.1:g.1235_1260del
NG_029213.1:g.5567_5592del , LRG_855:g.5567_5592del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.225-76_225-51del (CHKB) MANE Select	ENSP00000384400.3:n.225-76_225-51del
ENST00000406938.2:c.225-76_225-51del (CHKB)	ENSP00000384400.2:n.225-76_225-51del
ENST00000463053.1:n.307-76_307-51del (CHKB)
ENST00000468532.5:n.26_51del (CHKB)
ENST00000476289.5:n.422_447del (CHKB)
ENST00000479003.5:n.388_413del (CHKB)
ENST00000481673.5:n.289-76_289-51del (CHKB)
ENST00000484266.5:n.392_417del (CHKB)
ENST00000492556.5:n.533_558del (CHKB-CPT1B)
ENST00000492582.5:n.422_447del (CHKB)
NM_005198.4:c.225-76_225-51del , LRG_855t1:c.225-76_225-51del (CHKB)	NP_005189.2:n.225-76_225-51del
NR_027928.2:n.443-76_443-51del (CHKB-CPT1B)
NM_005198.5:c.225-76_225-51del (CHKB) MANE Select	NP_005189.2:n.225-76_225-51del