Canonical Allele Identifier: CA1969331776
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47338075_47338076delinsCA , CM000673.2:g.47338075_47338076delinsCA GRCh38
NC_000011.9:g.47359626_47359627delinsCA , CM000673.1:g.47359626_47359627delinsCA GRCh37
NC_000011.8:g.47316202_47316203delinsCA NCBI36
NG_007667.1:g.19627_19628delinsTG , LRG_386:g.19627_19628delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2309-282_2309-281delinsTG MANE Select ENSP00000442795.1:n.2309-282_2309-281delinsTG
ENST00000256993.8:c.2309-282_2309-281delinsTG ENSP00000256993.5:n.2309-282_2309-281delinsTG
ENST00000399249.6:c.2309-282_2309-281delinsTG ENSP00000382193.2:n.2309-282_2309-281delinsTG
ENST00000544791.1:c.2309-282_2309-281delinsTG ENSP00000444259.1:n.2309-282_2309-281delinsTG
ENST00000545968.5:c.2309-282_2309-281delinsTG ENSP00000442795.1:n.2309-282_2309-281delinsTG
NM_000256.3:c.2309-282_2309-281delinsTG , LRG_386t1:c.2309-282_2309-281delinsTG MANE Select NP_000247.2:n.2309-282_2309-281delinsTG
XM_011520117.1:c.2291-282_2291-281delinsTG XP_011518419.1:n.2291-282_2291-281delinsTG
XM_011520118.1:c.2228-282_2228-281delinsTG XP_011518420.1:n.2228-282_2228-281delinsTG