Canonical Allele Identifier: CA325538487

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs774357905
• gnomAD v4: 22-50582030-ATG-A
• MyVariant Identifiers: chr22:g.51020460_51020461del (hg19) ; chr22:g.50582031_50582032del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582032_50582033del , CM000684.2:g.50582032_50582033del	GRCh38
NC_000022.10:g.51020461_51020462del , CM000684.1:g.51020461_51020462del	GRCh37
NC_000022.9:g.49367327_49367328del	NCBI36
NG_012643.1:g.1636_1637del
NG_029213.1:g.5968_5969del , LRG_855:g.5968_5969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.334-170_334-169del (CHKB) MANE Select	ENSP00000384400.3:n.334-170_334-169del
ENST00000406938.2:c.334-170_334-169del (CHKB)	ENSP00000384400.2:n.334-170_334-169del
ENST00000463053.1:n.479_480del (CHKB)
ENST00000465842.1:n.173-170_173-169del (CHKB)
ENST00000468532.5:n.211-170_211-169del (CHKB)
ENST00000476289.5:n.607-170_607-169del (CHKB)
ENST00000479003.5:n.789_790del (CHKB)
ENST00000481673.5:n.614_615del (CHKB)
ENST00000484266.5:n.576+217_576+218del (CHKB)
ENST00000492556.5:n.934_935del (CHKB-CPT1B)
ENST00000492582.5:n.823_824del (CHKB)
NM_005198.4:c.334-170_334-169del , LRG_855t1:c.334-170_334-169del (CHKB)	NP_005189.2:n.334-170_334-169del
NR_027928.2:n.552-170_552-169del (CHKB-CPT1B)
NM_005198.5:c.334-170_334-169del (CHKB) MANE Select	NP_005189.2:n.334-170_334-169del