Canonical Allele Identifier: CA16619335
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 418356
ClinVar RCV Id: RCV000481797 RCV000697578 RCV002323816
dbSNP Id: rs1064793202
MyVariant Identifiers: chr11:g.47355173_47355174insTT (hg19) chr11:g.47333622_47333623insTT (hg38)
PubMed: PMID:9562578
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333623_47333624insTT , CM000673.2:g.47333623_47333624insTT GRCh38
NC_000011.9:g.47355174_47355175insTT , CM000673.1:g.47355174_47355175insTT GRCh37
NC_000011.8:g.47311750_47311751insTT NCBI36
NG_007667.1:g.24080_24081insAA , LRG_386:g.24080_24081insAA

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3124_3125insAA MANE Select ENSP00000442795.1:p.Thr1042LysfsTer5
ENST00000256993.8:c.3124_3125insAA ENSP00000256993.5:p.Thr1042LysfsTer5
ENST00000399249.6:c.3124_3125insAA ENSP00000382193.2:p.Thr1042LysfsTer5
ENST00000545968.5:c.3124_3125insAA ENSP00000442795.1:p.Thr1042LysfsTer5
NM_000256.3:c.3124_3125insAA , LRG_386t1:c.3124_3125insAA MANE Select NP_000247.2:p.Thr1042LysfsTer5
XM_011520117.1:c.3106_3107insAA XP_011518419.1:p.Thr1036LysfsTer5
XM_011520118.1:c.3043_3044insAA XP_011518420.1:p.Thr1015LysfsTer5
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