Canonical Allele Identifier: CA1969333268
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs2095886031

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47339464_47339465insACCTTGCCTGCCCCCTGACCAGC , CM000673.2:g.47339464_47339465insACCTTGCCTGCCCCCTGACCAGC GRCh38
NC_000011.9:g.47361015_47361016insACCTTGCCTGCCCCCTGACCAGC , CM000673.1:g.47361015_47361016insACCTTGCCTGCCCCCTGACCAGC GRCh37
NC_000011.8:g.47317591_47317592insACCTTGCCTGCCCCCTGACCAGC NCBI36
NG_007667.1:g.18239_18240insCTGGTCAGGGGGCAGGCAAGGTG , LRG_386:g.18239_18240insCTGGTCAGGGGGCAGGCAAGGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2068-60_2068-59insCTGGTCAGGGGGCAGGCAAGGTG MANE Select ENSP00000442795.1:n.2068-60_2068-59insCTGGTCAGGGGGCAGGCAAGGTG...
ENST00000256993.8:c.2068-60_2068-59insCTGGTCAGGGGGCAGGCAAGGTG ENSP00000256993.5:n.2068-60_2068-59insCTGGTCAGGGGGCAGGCAAGGTG...
ENST00000399249.6:c.2068-60_2068-59insCTGGTCAGGGGGCAGGCAAGGTG ENSP00000382193.2:n.2068-60_2068-59insCTGGTCAGGGGGCAGGCAAGGTG...
ENST00000544791.1:c.2068-60_2068-59insCTGGTCAGGGGGCAGGCAAGGTG ENSP00000444259.1:n.2068-60_2068-59insCTGGTCAGGGGGCAGGCAAGGTG...
ENST00000545968.5:c.2068-60_2068-59insCTGGTCAGGGGGCAGGCAAGGTG ENSP00000442795.1:n.2068-60_2068-59insCTGGTCAGGGGGCAGGCAAGGTG...
NM_000256.3:c.2068-60_2068-59insCTGGTCAGGGGGCAGGCAAGGTG , LRG_386t1:c.2068-60_2068-59insCTGGTCAGGGGGCAGGCAAGGTG MANE Select NP_000247.2:n.2068-60_2068-59insCTGGTCAGGGGGCAGGCAAGGTG
XM_011520117.1:c.2050-60_2050-59insCTGGTCAGGGGGCAGGCAAGGTG XP_011518419.1:n.2050-60_2050-59insCTGGTCAGGGGGCAGGCAAGGTG
XM_011520118.1:c.2067+187_2067+188insCTGGTCAGGGGGCAGGCAAGGTG XP_011518420.1:n.2067+187_2067+188insCTGGTCAGGGGGCAGGCAAGGTG