Canonical Allele Identifier: CA599058489

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1332761480
• gnomAD v2: 11-47359491-TTTC-T
• gnomAD v3: 11-47337940-TTTC-T
• gnomAD v4: 11-47337940-TTTC-T
• MyVariant Identifiers: chr11:g.47359492_47359494del (hg19) ; chr11:g.47337941_47337943del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337946_47337948del , CM000673.2:g.47337946_47337948del	GRCh38
NC_000011.9:g.47359497_47359499del , CM000673.1:g.47359497_47359499del	GRCh37
NC_000011.8:g.47316073_47316075del	NCBI36
NG_007667.1:g.19760_19762del , LRG_386:g.19760_19762del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2309-149_2309-147del MANE Select	ENSP00000442795.1:n.2309-149_2309-147del
ENST00000256993.8:c.2309-149_2309-147del	ENSP00000256993.5:n.2309-149_2309-147del
ENST00000399249.6:c.2309-149_2309-147del	ENSP00000382193.2:n.2309-149_2309-147del
ENST00000544791.1:c.2309-149_2309-147del	ENSP00000444259.1:n.2309-149_2309-147del
ENST00000545968.5:c.2309-149_2309-147del	ENSP00000442795.1:n.2309-149_2309-147del
NM_000256.3:c.2309-149_2309-147del , LRG_386t1:c.2309-149_2309-147del MANE Select	NP_000247.2:n.2309-149_2309-147del
XM_011520117.1:c.2291-149_2291-147del	XP_011518419.1:n.2291-149_2291-147del
XM_011520118.1:c.2228-149_2228-147del	XP_011518420.1:n.2228-149_2228-147del