Canonical Allele Identifier: CA2613402662

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47342543-C-CCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342544_47342546dup , CM000673.2:g.47342544_47342546dup	GRCh38
NC_000011.9:g.47364095_47364097dup , CM000673.1:g.47364095_47364097dup	GRCh37
NC_000011.8:g.47320671_47320673dup	NCBI36
NG_007667.1:g.15157_15159dup , LRG_386:g.15157_15159dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1624+32_1624+34dup MANE Select	ENSP00000442795.1:n.1624+32_1624+34dup
ENST00000256993.8:c.1624+32_1624+34dup	ENSP00000256993.5:n.1624+32_1624+34dup
ENST00000399249.6:c.1624+32_1624+34dup	ENSP00000382193.2:n.1624+32_1624+34dup
ENST00000544791.1:c.1624+32_1624+34dup	ENSP00000444259.1:n.1624+32_1624+34dup
ENST00000545968.5:c.1624+32_1624+34dup	ENSP00000442795.1:n.1624+32_1624+34dup
NM_000256.3:c.1624+32_1624+34dup , LRG_386t1:c.1624+32_1624+34dup MANE Select	NP_000247.2:n.1624+32_1624+34dup
XM_011520117.1:c.1606+32_1606+34dup	XP_011518419.1:n.1606+32_1606+34dup
XM_011520118.1:c.1624+32_1624+34dup	XP_011518420.1:n.1624+32_1624+34dup