Canonical Allele Identifier: CA1969333248
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs2095885997

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47339438_47339442dup , CM000673.2:g.47339438_47339442dup GRCh38
NC_000011.9:g.47360989_47360993dup , CM000673.1:g.47360989_47360993dup GRCh37
NC_000011.8:g.47317565_47317569dup NCBI36
NG_007667.1:g.18263_18267dup , LRG_386:g.18263_18267dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2068-36_2068-32dup MANE Select ENSP00000442795.1:n.2068-36_2068-32dup
ENST00000256993.8:c.2068-36_2068-32dup ENSP00000256993.5:n.2068-36_2068-32dup
ENST00000399249.6:c.2068-36_2068-32dup ENSP00000382193.2:n.2068-36_2068-32dup
ENST00000544791.1:c.2068-36_2068-32dup ENSP00000444259.1:n.2068-36_2068-32dup
ENST00000545968.5:c.2068-36_2068-32dup ENSP00000442795.1:n.2068-36_2068-32dup
NM_000256.3:c.2068-36_2068-32dup , LRG_386t1:c.2068-36_2068-32dup MANE Select NP_000247.2:n.2068-36_2068-32dup
XM_011520117.1:c.2050-36_2050-32dup XP_011518419.1:n.2050-36_2050-32dup
XM_011520118.1:c.2067+211_2067+215dup XP_011518420.1:n.2067+211_2067+215dup