Canonical Allele Identifier: CA676997349

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1158981723
• MyVariant Identifiers: chr11:g.47361253_47361254del (hg19) ; chr11:g.47339702_47339703del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47339702_47339703del , CM000673.2:g.47339702_47339703del	GRCh38
NC_000011.9:g.47361253_47361254del , CM000673.1:g.47361253_47361254del	GRCh37
NC_000011.8:g.47317829_47317830del	NCBI36
NG_007667.1:g.18000_18001del , LRG_386:g.18000_18001del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2015_2016del MANE Select	ENSP00000442795.1:p.Pro672HisfsTer20
ENST00000256993.8:c.2015_2016del	ENSP00000256993.5:p.Pro672HisfsTer20
ENST00000399249.6:c.2015_2016del	ENSP00000382193.2:p.Pro672HisfsTer20
ENST00000544791.1:c.2015_2016del	ENSP00000444259.1:p.Pro672HisfsTer20
ENST00000545968.5:c.2015_2016del	ENSP00000442795.1:p.Pro672HisfsTer20
NM_000256.3:c.2015_2016del , LRG_386t1:c.2015_2016del MANE Select	NP_000247.2:p.Pro672HisfsTer20
XM_011520117.1:c.1997_1998del	XP_011518419.1:p.Pro666HisfsTer20
XM_011520118.1:c.2015_2016del	XP_011518420.1:p.Pro672HisfsTer21