Canonical Allele Identifier: CA5975360

Gene: MYBPC3

Linked Data

• dbSNP Id: rs774277338
• ExAC: 11:47354563 G / GCCCT
• gnomAD v2: 11-47354563-G-GCCCT
• gnomAD v3: 11-47333012-G-GCCCT
• gnomAD v4: 11-47333012-G-GCCCT
• MyVariant Identifiers: chr11:g.47354563_47354564insCCCT (hg19) ; chr11:g.47333012_47333013insCCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333013_47333016dup , CM000673.2:g.47333013_47333016dup	GRCh38
NC_000011.9:g.47354564_47354567dup , CM000673.1:g.47354564_47354567dup	GRCh37
NC_000011.8:g.47311140_47311143dup	NCBI36
NG_007667.1:g.24687_24690dup , LRG_386:g.24687_24690dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3331-43_3331-40dup MANE Select	ENSP00000442795.1:n.3331-43_3331-40dup
ENST00000256993.8:c.3331-43_3331-40dup	ENSP00000256993.5:n.3331-43_3331-40dup
ENST00000399249.6:c.3331-43_3331-40dup	ENSP00000382193.2:n.3331-43_3331-40dup
ENST00000545968.5:c.3331-43_3331-40dup	ENSP00000442795.1:n.3331-43_3331-40dup
NM_000256.3:c.3331-43_3331-40dup , LRG_386t1:c.3331-43_3331-40dup MANE Select	NP_000247.2:n.3331-43_3331-40dup
XM_011520117.1:c.3313-43_3313-40dup	XP_011518419.1:n.3313-43_3313-40dup
XM_011520118.1:c.3250-43_3250-40dup	XP_011518420.1:n.3250-43_3250-40dup