Canonical Allele Identifier: CA2573146364

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1373143
• ClinVar RCV Id: RCV001880672
• dbSNP Id: rs2142850807

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333218_47333224del , CM000673.2:g.47333218_47333224del	GRCh38
NC_000011.9:g.47354769_47354775del , CM000673.1:g.47354769_47354775del	GRCh37
NC_000011.8:g.47311345_47311351del	NCBI36
NG_007667.1:g.24481_24487del , LRG_386:g.24481_24487del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3302_3308del MANE Select	ENSP00000442795.1:p.Thr1101ArgfsTer?
ENST00000256993.8:c.3302_3308del	ENSP00000256993.5:p.Thr1101ArgfsTer?
ENST00000399249.6:c.3302_3308del	ENSP00000382193.2:p.Thr1101ArgfsTer?
ENST00000545968.5:c.3302_3308del	ENSP00000442795.1:p.Thr1101ArgfsTer?
NM_000256.3:c.3302_3308del , LRG_386t1:c.3302_3308del MANE Select	NP_000247.2:p.Thr1101ArgfsTer?
XM_011520117.1:c.3284_3290del	XP_011518419.1:p.Thr1095ArgfsTer?
XM_011520118.1:c.3221_3227del	XP_011518420.1:p.Thr1074ArgfsTer?