Canonical Allele Identifier: CA961064223
Gene: MYH6 HGNC NCBI

Linked Data

dbSNP Id: rs1891400645
gnomAD v3: 14-23396509-TC-T
gnomAD v4: 14-23396509-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23396510del , CM000676.2:g.23396510del GRCh38
NC_000014.8:g.23865719del , CM000676.1:g.23865719del GRCh37
NC_000014.7:g.22935559del NCBI36
NG_023444.1:g.16768del , LRG_389:g.16768del

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.2293-90del MANE Select ENSP00000386041.3:n.2293-90del
ENST00000356287.3:c.2293-90del ENSP00000348634.3:n.2293-90del
ENST00000405093.7:c.2293-90del ENSP00000386041.3:n.2293-90del
NM_002471.3:c.2293-90del , LRG_389t1:c.2293-90del NP_002462.2:n.2293-90del
NM_002471.4:c.2293-90del MANE Select NP_002462.2:n.2293-90del
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