Canonical Allele Identifier: CA1139663373
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 976028
ClinVar RCV Id: RCV003320242
dbSNP Id: rs1892274161
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417571_23417573del , CM000676.2:g.23417571_23417573del GRCh38
NC_000014.8:g.23886780_23886782del , CM000676.1:g.23886780_23886782del GRCh37
NC_000014.7:g.22956620_22956622del NCBI36
NG_007884.1:g.23091_23093del , LRG_384:g.23091_23093del

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4285_4287del (MYH7) MANE Select ENSP00000347507.3:p.Met1429del
ENST00000355349.3:c.4285_4287del (MYH7) ENSP00000347507.3:p.Met1429del
NM_000257.3:c.4285_4287del (MYH7) NP_000248.2:p.Met1429del
NR_126491.1:n.852_854del (MHRT)
XM_017021340.1:c.4285_4287del (MYH7) XP_016876829.1:p.Met1429del
NM_000257.4:c.4285_4287del (MYH7) MANE Select NP_000248.2:p.Met1429del
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Search 100 bp 3'