Canonical Allele Identifier: CA1969335629
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333553_47333554delinsGC , CM000673.2:g.47333553_47333554delinsGC GRCh38
NC_000011.9:g.47355104_47355105delinsGC , CM000673.1:g.47355104_47355105delinsGC GRCh37
NC_000011.8:g.47311680_47311681delinsGC NCBI36
NG_007667.1:g.24149_24150delinsGC , LRG_386:g.24149_24150delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3190+3_3190+4delinsGC MANE Select ENSP00000442795.1:n.3190+3_3190+4delinsGC...
ENST00000256993.8:c.3190+3_3190+4delinsGC ENSP00000256993.5:n.3190+3_3190+4delinsGC...
ENST00000399249.6:c.3190+3_3190+4delinsGC ENSP00000382193.2:n.3190+3_3190+4delinsGC...
ENST00000545968.5:c.3190+3_3190+4delinsGC ENSP00000442795.1:n.3190+3_3190+4delinsGC...
NM_000256.3:c.3190+3_3190+4delinsGC , LRG_386t1:c.3190+3_3190+4delinsGC MANE Select NP_000247.2:n.3190+3_3190+4delinsGC
XM_011520117.1:c.3172+3_3172+4delinsGC XP_011518419.1:n.3172+3_3172+4delinsGC
XM_011520118.1:c.3109+3_3109+4delinsGC XP_011518420.1:n.3109+3_3109+4delinsGC