Canonical Allele Identifier: CA599374378

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1444855902
• gnomAD v2: 11-47361200-ACCTGCGTGATAG-A
• gnomAD v3: 11-47339649-ACCTGCGTGATAG-A
• gnomAD v4: 11-47339649-ACCTGCGTGATAG-A
• MyVariant Identifiers: chr11:g.47361201_47361212del (hg19) ; chr11:g.47339650_47339661del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47339653_47339664del , CM000673.2:g.47339653_47339664del	GRCh38
NC_000011.9:g.47361204_47361215del , CM000673.1:g.47361204_47361215del	GRCh37
NC_000011.8:g.47317780_47317791del	NCBI36
NG_007667.1:g.18042_18053del , LRG_386:g.18042_18053del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.2057_2067+1del
ENST00000256993.8:c.2057_2067+1del
ENST00000399249.6:c.2057_2067+1del
ENST00000544791.1:c.2057_2067+1del
ENST00000545968.5:c.2057_2067+1del
NM_000256.3:c.2057_2067+1del , LRG_386t1:c.2057_2067+1del
XM_011520117.1:c.2039_2049+1del
XM_011520118.1:c.2057_2067+1del