Canonical Allele Identifier: CA754073334

Gene: CHKB CHKB-CPT1B

Linked Data

• dbSNP Id: rs1277031060
• gnomAD v3: 22-50582020-GGGTCTCACTATGTTGTCCAGGCT-G
• gnomAD v4: 22-50582020-GGGTCTCACTATGTTGTCCAGGCT-G
• MyVariant Identifiers: chr22:g.51020450_51020472del (hg19) ; chr22:g.50582021_50582043del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582027_50582049del , CM000684.2:g.50582027_50582049del	GRCh38
NC_000022.10:g.51020456_51020478del , CM000684.1:g.51020456_51020478del	GRCh37
NC_000022.9:g.49367322_49367344del	NCBI36
NG_012643.1:g.1625_1647del
NG_029213.1:g.5957_5979del , LRG_855:g.5957_5979del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.334-181_334-159del (CHKB) MANE Select	ENSP00000384400.3:n.334-181_334-159del
ENST00000406938.2:c.334-181_334-159del (CHKB)	ENSP00000384400.2:n.334-181_334-159del
ENST00000463053.1:n.468_482+8del (CHKB)
ENST00000465842.1:n.173-181_173-159del (CHKB)
ENST00000468532.5:n.211-181_211-159del (CHKB)
ENST00000476289.5:n.607-181_607-159del (CHKB)
ENST00000479003.5:n.778_800del (CHKB)
ENST00000481673.5:n.603_625del (CHKB)
ENST00000484266.5:n.576+206_576+228del (CHKB)
ENST00000492556.5:n.923_945del (CHKB-CPT1B)
ENST00000492582.5:n.812_834del (CHKB)
NM_005198.4:c.334-181_334-159del , LRG_855t1:c.334-181_334-159del (CHKB)	NP_005189.2:n.334-181_334-159del
NR_027928.2:n.552-181_552-159del (CHKB-CPT1B)
NM_005198.5:c.334-181_334-159del (CHKB) MANE Select	NP_005189.2:n.334-181_334-159del