Canonical Allele Identifier: CA2613393911
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47333617-GGTAAGTGCCTGAATGCACGCGGCGA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333619_47333643del , CM000673.2:g.47333619_47333643del GRCh38
NC_000011.9:g.47355170_47355194del , CM000673.1:g.47355170_47355194del GRCh37
NC_000011.8:g.47311746_47311770del NCBI36
NG_007667.1:g.24061_24085del , LRG_386:g.24061_24085del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3105_3129del MANE Select ENSP00000442795.1:p.Arg1037Ter
ENST00000256993.8:c.3105_3129del ENSP00000256993.5:p.Arg1037Ter
ENST00000399249.6:c.3105_3129del ENSP00000382193.2:p.Arg1037Ter
ENST00000545968.5:c.3105_3129del ENSP00000442795.1:p.Arg1037Ter
NM_000256.3:c.3105_3129del , LRG_386t1:c.3105_3129del MANE Select NP_000247.2:p.Arg1037Ter
XM_011520117.1:c.3087_3111del XP_011518419.1:p.Arg1031Ter
XM_011520118.1:c.3024_3048del XP_011518420.1:p.Arg1010Ter
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