Canonical Allele Identifier: CA937665251
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs2095877765
gnomAD v3: 11-47332168-TCTCCAGAGTCAACA-T
gnomAD v4: 11-47332168-TCTCCAGAGTCAACA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332173_47332186del , CM000673.2:g.47332173_47332186del GRCh38
NC_000011.9:g.47353724_47353737del , CM000673.1:g.47353724_47353737del GRCh37
NC_000011.8:g.47310300_47310313del NCBI36
NG_007667.1:g.25521_25534del , LRG_386:g.25521_25534del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3704_3717del MANE Select ENSP00000442795.1:p.Val1235AspfsTer2
ENST00000256993.8:c.3704_3717del ENSP00000256993.5:p.Val1235AspfsTer2
ENST00000399249.6:c.3704_3717del ENSP00000382193.2:p.Val1235AspfsTer2
ENST00000545968.5:c.3704_3717del ENSP00000442795.1:p.Val1235AspfsTer2
NM_000256.3:c.3704_3717del , LRG_386t1:c.3704_3717del MANE Select NP_000247.2:p.Val1235AspfsTer2
XM_011520117.1:c.3686_3699del XP_011518419.1:p.Val1229AspfsTer2
XM_011520118.1:c.3623_3636del XP_011518420.1:p.Val1208AspfsTer2
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