Canonical Allele Identifier: CA599057723

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1216110529
• gnomAD v2: 11-47353617-CCTCACCTCGCACCTCCAGGCGGCA-C
• gnomAD v4: 11-47332066-CCTCACCTCGCACCTCCAGGCGGCA-C
• MyVariant Identifiers: chr11:g.47353618_47353641del (hg19) ; chr11:g.47332067_47332090del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332072_47332095del , CM000673.2:g.47332072_47332095del	GRCh38
NC_000011.9:g.47353623_47353646del , CM000673.1:g.47353623_47353646del	GRCh37
NC_000011.8:g.47310199_47310222del	NCBI36
NG_007667.1:g.25613_25636del , LRG_386:g.25613_25636del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.3796_3814+5del
ENST00000256993.8:c.3796_3814+5del
ENST00000399249.6:c.3796_3814+5del
ENST00000545968.5:c.3796_3814+5del
NM_000256.3:c.3796_3814+5del , LRG_386t1:c.3796_3814+5del
XM_011520117.1:c.3778_3796+5del
XM_011520118.1:c.3715_3733+5del