Canonical Allele Identifier: CA2657583979

Gene: CHKB CHKB-CPT1B

Linked Data

• gnomAD v4: 22-50581968-G-GTGCTCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50581968_50581969insTGCTCCA , CM000684.2:g.50581968_50581969insTGCTCCA	GRCh38
NC_000022.10:g.51020397_51020398insTGCTCCA , CM000684.1:g.51020397_51020398insTGCTCCA	GRCh37
NC_000022.9:g.49367263_49367264insTGCTCCA	NCBI36
NG_012643.1:g.1699_1700insTGGAGCA
NG_029213.1:g.6031_6032insTGGAGCA , LRG_855:g.6031_6032insTGGAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.334-107_334-106insTGGAGCA (CHKB) MANE Select	ENSP00000384400.3:n.334-107_334-106insTGGAGCA
ENST00000406938.2:c.334-107_334-106insTGGAGCA (CHKB)	ENSP00000384400.2:n.334-107_334-106insTGGAGCA
ENST00000463053.1:n.482+60_482+61insTGGAGCA (CHKB)
ENST00000465842.1:n.173-107_173-106insTGGAGCA (CHKB)
ENST00000468532.5:n.211-107_211-106insTGGAGCA (CHKB)
ENST00000476289.5:n.607-107_607-106insTGGAGCA (CHKB)
ENST00000479003.5:n.852_853insTGGAGCA (CHKB)
ENST00000481673.5:n.677_678insTGGAGCA (CHKB)
ENST00000484266.5:n.576+280_576+281insTGGAGCA (CHKB)
ENST00000492556.5:n.997_998insTGGAGCA (CHKB-CPT1B)
ENST00000492582.5:n.886_887insTGGAGCA (CHKB)
NM_005198.4:c.334-107_334-106insTGGAGCA , LRG_855t1:c.334-107_334-106insTGGAGCA (CHKB)	NP_005189.2:n.334-107_334-106insTGGAGCA
NR_027928.2:n.552-107_552-106insTGGAGCA (CHKB-CPT1B)
NM_005198.5:c.334-107_334-106insTGGAGCA (CHKB) MANE Select	NP_005189.2:n.334-107_334-106insTGGAGCA