Canonical Allele Identifier: CA915948129
Community Standard Title: NM_000256.3(MYBPC3):c.3476_3477insATTT (p.Phe1159LeufsTer11)
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332829_47332830insATAA , CM000673.2:g.47332829_47332830insATAA GRCh38
NC_000011.9:g.47354380_47354381insATAA , CM000673.1:g.47354380_47354381insATAA GRCh37
NC_000011.8:g.47310956_47310957insATAA NCBI36
NG_007667.1:g.24875_24876insATTT , LRG_386:g.24875_24876insATTT

Transcript Alleles

HGVS Amino-acid Change
NM_000256.3:c.3476_3477insATTT , LRG_386t1:c.3476_3477insATTT MANE Select NP_000247.2:p.Phe1159LeufsTer11
ENST00000545968.6:c.3476_3477insATTT MANE Select ENSP00000442795.1:p.Phe1159LeufsTer11
ENST00000256993.8:c.3476_3477insATTT ENSP00000256993.5:p.Phe1159LeufsTer11
ENST00000399249.6:c.3476_3477insATTT ENSP00000382193.2:p.Phe1159LeufsTer11
ENST00000545968.5:c.3476_3477insATTT ENSP00000442795.1:p.Phe1159LeufsTer11
XM_011520117.1:c.3458_3459insATTT XP_011518419.1:p.Phe1153LeufsTer11
XM_011520118.1:c.3395_3396insATTT XP_011518420.1:p.Phe1132LeufsTer11