Canonical Allele Identifier: CA937655767
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs2095890711
gnomAD v3: 11-47343073-GGCT-G
gnomAD v4: 11-47343073-GGCT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343076_47343078del , CM000673.2:g.47343076_47343078del GRCh38
NC_000011.9:g.47364627_47364629del , CM000673.1:g.47364627_47364629del GRCh37
NC_000011.8:g.47321203_47321205del NCBI36
NG_007667.1:g.14627_14629del , LRG_386:g.14627_14629del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1296_1298del MANE Select ENSP00000442795.1:p.Ala433del
ENST00000256993.8:c.1296_1298del ENSP00000256993.5:p.Ala433del
ENST00000399249.6:c.1296_1298del ENSP00000382193.2:p.Ala433del
ENST00000544791.1:c.1296_1298del ENSP00000444259.1:p.Ala433del
ENST00000545968.5:c.1296_1298del ENSP00000442795.1:p.Ala433del
NM_000256.3:c.1296_1298del , LRG_386t1:c.1296_1298del MANE Select NP_000247.2:p.Ala433del
XM_011520117.1:c.1278_1280del XP_011518419.1:p.Ala427del
XM_011520118.1:c.1296_1298del XP_011518420.1:p.Ala433del
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