Canonical Allele Identifier: CA2410934837

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50579481_50579483del , CM000684.2:g.50579481_50579483del	GRCh38
NC_000022.10:g.51017910_51017912del , CM000684.1:g.51017910_51017912del	GRCh37
NC_000022.9:g.49364776_49364778del	NCBI36
NG_012643.1:g.4185_4187del
NG_029213.1:g.8517_8519del , LRG_855:g.8517_8519del

Transcript Alleles

HGVS	Amino-acid Change
NM_005198.5:c.1056_1058del (CHKB) MANE Select	NP_005189.2:p.Phe352_Trp353delinsLeu
ENST00000406938.3:c.1056_1058del (CHKB) MANE Select	ENSP00000384400.3:p.Phe352_Trp353delinsLeu
NM_005198.4:c.1056_1058del , LRG_855t1:c.1056_1058del (CHKB)	NP_005189.2:p.Phe352_Trp353delinsLeu
NR_027928.2:n.1274_1276del (CHKB-CPT1B)
ENST00000406938.2:c.1056_1058del (CHKB)	ENSP00000384400.2:p.Phe352_Trp353delinsLeu
ENST00000452668.1:n.67-25_67-23del (CHKB-CPT1B)
ENST00000453634.5:c.51_53del (CHKB-CPT1B)	ENSP00000457031.1:p.Phe17_Trp18delinsLeu
ENST00000464225.5:n.274_276del (CHKB)
ENST00000468532.5:n.1019_1021del (CHKB)
ENST00000471515.5:n.307_309del (CHKB)
ENST00000479003.5:n.1767_1769del (CHKB)
ENST00000481673.5:n.1506_1508del (CHKB)
ENST00000484266.5:n.1051_1053del (CHKB)
ENST00000492556.5:n.1912_1914del (CHKB-CPT1B)
ENST00000492582.5:n.1715_1717del (CHKB)