Canonical Allele Identifier: CA1139661925

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 919666
• ClinVar RCV Id: RCV001177978
• dbSNP Id: rs2095888299

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341256_47341257insTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACAT , CM000673.2:g.47341256_47341257insTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACAT	GRCh38
NC_000011.9:g.47362807_47362808insTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACAT , CM000673.1:g.47362807_47362808insTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACAT	GRCh37
NC_000011.8:g.47319383_47319384insTCAGTAACATGGAAATGGTAATAGTCCTTCCATCATAGTGTTGTTTCGAGAATTAAATGAGATAATTACAT	NCBI36
NG_007667.1:g.16446_16447insATGTAATTATCTCATTTAATTCTCGAAACAACACTATGATGGAAGGACTATTACCATTTCCATGTTACTGA , LRG_386:g.16446_16447insATGTAATTATCTCATTTAATTCTCGAAACAACACTATGATGGAAGGACTATTACCATTTCCATGTTACTGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1791-13_1791-12insATGTAATTATCTCATTTAATTCTCGAAACAACACTATGATGGAAGGACTATTACCATTTCCATGTTACTGA MANE Select	ENSP00000442795.1:n.1791-13_1791-12insATG...
ENST00000256993.8:c.1791-13_1791-12insATGTAATTATCTCATTTAATTCTCGAAACAACACTATGATGGAAGGACTATTACCATTTCCATGTTACTGA	ENSP00000256993.5:n.1791-13_1791-12insATG...
ENST00000399249.6:c.1791-13_1791-12insATGTAATTATCTCATTTAATTCTCGAAACAACACTATGATGGAAGGACTATTACCATTTCCATGTTACTGA	ENSP00000382193.2:n.1791-13_1791-12insATG...
ENST00000544791.1:c.1791-13_1791-12insATGTAATTATCTCATTTAATTCTCGAAACAACACTATGATGGAAGGACTATTACCATTTCCATGTTACTGA	ENSP00000444259.1:n.1791-13_1791-12insATG...
ENST00000545968.5:c.1791-13_1791-12insATGTAATTATCTCATTTAATTCTCGAAACAACACTATGATGGAAGGACTATTACCATTTCCATGTTACTGA	ENSP00000442795.1:n.1791-13_1791-12insATG...
NM_000256.3:c.1791-13_1791-12insATGTAATTATCTCATTTAATTCTCGAAACAACACTATGATGGAAGGACTATTACCATTTCCATGTTACTGA , LRG_386t1:c.1791-13_1791-12insATGTAATTATCTCATTTAATTCTCGAAACAACACTATGATGGAAGGACTATTACCATTTCCATGTTACTGA MANE Select	NP_000247.2:n.1791-13_1791-12insATGTAATTA...
XM_011520117.1:c.1773-13_1773-12insATGTAATTATCTCATTTAATTCTCGAAACAACACTATGATGGAAGGACTATTACCATTTCCATGTTACTGA	XP_011518419.1:n.1773-13_1773-12insATGTAA...
XM_011520118.1:c.1791-13_1791-12insATGTAATTATCTCATTTAATTCTCGAAACAACACTATGATGGAAGGACTATTACCATTTCCATGTTACTGA	XP_011518420.1:n.1791-13_1791-12insATGTAA...