Canonical Allele Identifier: CA676991749

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1251135679
• gnomAD v3: 11-47333876-C-CTA
• gnomAD v4: 11-47333876-C-CTA
• MyVariant Identifiers: chr11:g.47355427_47355428insTA (hg19) ; chr11:g.47333876_47333877insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333879_47333880dup , CM000673.2:g.47333879_47333880dup	GRCh38
NC_000011.9:g.47355430_47355431dup , CM000673.1:g.47355430_47355431dup	GRCh37
NC_000011.8:g.47312006_47312007dup	NCBI36
NG_007667.1:g.23825_23826dup , LRG_386:g.23825_23826dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2994+44_2994+45dup MANE Select	ENSP00000442795.1:n.2994+44_2994+45dup
ENST00000256993.8:c.2994+44_2994+45dup	ENSP00000256993.5:n.2994+44_2994+45dup
ENST00000399249.6:c.2994+44_2994+45dup	ENSP00000382193.2:n.2994+44_2994+45dup
ENST00000545968.5:c.2994+44_2994+45dup	ENSP00000442795.1:n.2994+44_2994+45dup
NM_000256.3:c.2994+44_2994+45dup , LRG_386t1:c.2994+44_2994+45dup MANE Select	NP_000247.2:n.2994+44_2994+45dup
XM_011520117.1:c.2976+44_2976+45dup	XP_011518419.1:n.2976+44_2976+45dup
XM_011520118.1:c.2913+44_2913+45dup	XP_011518420.1:n.2913+44_2913+45dup