Canonical Allele Identifier: CA16609416
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 397542
ClinVar RCV Id: RCV000449536
dbSNP Id: rs1060499673
MyVariant Identifiers: chr11:g.47354750_47354751del (hg19) chr11:g.47333199_47333200del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333200_47333201del , CM000673.2:g.47333200_47333201del GRCh38
NC_000011.9:g.47354751_47354752del , CM000673.1:g.47354751_47354752del GRCh37
NC_000011.8:g.47311327_47311328del NCBI36
NG_007667.1:g.24503_24504del , LRG_386:g.24503_24504del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3324_3325del MANE Select ENSP00000442795.1:p.Lys1108AsnfsTer?
ENST00000256993.8:c.3324_3325del ENSP00000256993.5:p.Lys1108AsnfsTer?
ENST00000399249.6:c.3324_3325del ENSP00000382193.2:p.Lys1108AsnfsTer?
ENST00000545968.5:c.3324_3325del ENSP00000442795.1:p.Lys1108AsnfsTer?
NM_000256.3:c.3324_3325del , LRG_386t1:c.3324_3325del MANE Select NP_000247.2:p.Lys1108AsnfsTer?
XM_011520117.1:c.3306_3307del XP_011518419.1:p.Lys1102AsnfsTer?
XM_011520118.1:c.3243_3244del XP_011518420.1:p.Lys1081AsnfsTer?
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