Canonical Allele Identifier: CA2613401532
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47337517-T-TCAGGTCGAAGTTCAGCCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337520_47337537dup , CM000673.2:g.47337520_47337537dup GRCh38
NC_000011.9:g.47359071_47359088dup , CM000673.1:g.47359071_47359088dup GRCh37
NC_000011.8:g.47315647_47315664dup NCBI36
NG_007667.1:g.20168_20185dup , LRG_386:g.20168_20185dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2458_2475dup MANE Select ENSP00000442795.1:p.Leu825_Ile826insArgLeuAsnPheAspLeu
ENST00000256993.8:c.2458_2475dup ENSP00000256993.5:p.Leu825_Ile826insArgLeuAsnPheAspLeu
ENST00000399249.6:c.2458_2475dup ENSP00000382193.2:p.Leu825_Ile826insArgLeuAsnPheAspLeu
ENST00000544791.1:c.2414-24_2414-7dup ENSP00000444259.1:n.2414-24_2414-7dup
ENST00000545968.5:c.2458_2475dup ENSP00000442795.1:p.Leu825_Ile826insArgLeuAsnPheAspLeu
NM_000256.3:c.2458_2475dup , LRG_386t1:c.2458_2475dup MANE Select NP_000247.2:p.Leu825_Ile826insArgLeuAsnPheAspLeu
XM_011520117.1:c.2440_2457dup XP_011518419.1:p.Leu819_Ile820insArgLeuAsnPheAspLeu
XM_011520118.1:c.2377_2394dup XP_011518420.1:p.Leu798_Ile799insArgLeuAsnPheAspLeu
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