Canonical Allele Identifier: CA2613400913
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47337439-T-TGGCGTTGAC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337440_47337448dup , CM000673.2:g.47337440_47337448dup GRCh38
NC_000011.9:g.47358991_47358999dup , CM000673.1:g.47358991_47358999dup GRCh37
NC_000011.8:g.47315567_47315575dup NCBI36
NG_007667.1:g.20255_20263dup , LRG_386:g.20255_20263dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2545_2553dup MANE Select ENSP00000442795.1:p.Ala851_Ile852insValAsnAla
ENST00000256993.8:c.2545_2553dup ENSP00000256993.5:p.Ala851_Ile852insValAsnAla
ENST00000399249.6:c.2545_2553dup ENSP00000382193.2:p.Ala851_Ile852insValAsnAla
ENST00000544791.1:c.*50_*58dup ENSP00000444259.1:n.*50_*58dup
ENST00000545968.5:c.2545_2553dup ENSP00000442795.1:p.Ala851_Ile852insValAsnAla
NM_000256.3:c.2545_2553dup , LRG_386t1:c.2545_2553dup MANE Select NP_000247.2:p.Ala851_Ile852insValAsnAla
XM_011520117.1:c.2527_2535dup XP_011518419.1:p.Ala845_Ile846insValAsnAla
XM_011520118.1:c.2464_2472dup XP_011518420.1:p.Ala824_Ile825insValAsnAla
Search 100 bp 5'
Search 100 bp 3'