Canonical Allele Identifier: CA599374429

Gene: MYBPC3

Linked Data

• gnomAD v2: 11-47362715-T-TTTTTTAA
• gnomAD v4: 11-47341164-T-TTTTTTAA
• MyVariant Identifiers: chr11:g.47362715_47362716insTTTTTAA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341165_47341166insTTTTAAT , CM000673.2:g.47341165_47341166insTTTTAAT	GRCh38
NC_000011.9:g.47362716_47362717insTTTTAAT , CM000673.1:g.47362716_47362717insTTTTAAT	GRCh37
NC_000011.8:g.47319292_47319293insTTTTAAT	NCBI36
NG_007667.1:g.16538_16539insTTAAAAA , LRG_386:g.16538_16539insTTAAAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1870_1871insTTAAAAA MANE Select	ENSP00000442795.1:p.Asn624IlefsTer16
ENST00000256993.8:c.1870_1871insTTAAAAA	ENSP00000256993.5:p.Asn624IlefsTer16
ENST00000399249.6:c.1870_1871insTTAAAAA	ENSP00000382193.2:p.Asn624IlefsTer16
ENST00000544791.1:c.1870_1871insTTAAAAA	ENSP00000444259.1:p.Asn624IlefsTer16
ENST00000545968.5:c.1870_1871insTTAAAAA	ENSP00000442795.1:p.Asn624IlefsTer16
NM_000256.3:c.1870_1871insTTAAAAA , LRG_386t1:c.1870_1871insTTAAAAA MANE Select	NP_000247.2:p.Asn624IlefsTer16
XM_011520117.1:c.1852_1853insTTAAAAA	XP_011518419.1:p.Asn618IlefsTer16
XM_011520118.1:c.1870_1871insTTAAAAA	XP_011518420.1:p.Asn624IlefsTer16