Canonical Allele Identifier: CA1969335110
Gene: MYBPC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333198_47333201delinsGTCT , CM000673.2:g.47333198_47333201delinsGTCT GRCh38
NC_000011.9:g.47354749_47354752delinsGTCT , CM000673.1:g.47354749_47354752delinsGTCT GRCh37
NC_000011.8:g.47311325_47311328delinsGTCT NCBI36
NG_007667.1:g.24502_24505delinsAGAC , LRG_386:g.24502_24505delinsAGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3323_3326delinsAGAC MANE Select ENSP00000442795.1:p.Lys1108=
ENST00000256993.8:c.3323_3326delinsAGAC ENSP00000256993.5:p.Lys1108=
ENST00000399249.6:c.3323_3326delinsAGAC ENSP00000382193.2:p.Lys1108=
ENST00000545968.5:c.3323_3326delinsAGAC ENSP00000442795.1:p.Lys1108=
NM_000256.3:c.3323_3326delinsAGAC , LRG_386t1:c.3323_3326delinsAGAC MANE Select NP_000247.2:p.Lys1108=
XM_011520117.1:c.3305_3308delinsAGAC XP_011518419.1:p.Lys1102=
XM_011520118.1:c.3242_3245delinsAGAC XP_011518420.1:p.Lys1081=