Canonical Allele Identifier: CA2624237534
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

gnomAD v4: 14-23417344-C-CAGCCCCCCAGCCTT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417357_23417358insTAGCCCCCCAGCCT , CM000676.2:g.23417357_23417358insTAGCCCCCCAGCCT GRCh38
NC_000014.8:g.23886566_23886567insTAGCCCCCCAGCCT , CM000676.1:g.23886566_23886567insTAGCCCCCCAGCCT GRCh37
NC_000014.7:g.22956406_22956407insTAGCCCCCCAGCCT NCBI36
NG_007884.1:g.23317_23318insAAGGCTGGGGGGCT , LRG_384:g.23317_23318insAAGGCTGGGGGGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4354-27_4354-26insAAGGCTGGGGGGCT (MYH7) MANE Select ENSP00000347507.3:n.4354-27_4354-26insAAGGCTGGGGGGCT
ENST00000355349.3:c.4354-27_4354-26insAAGGCTGGGGGGCT (MYH7) ENSP00000347507.3:n.4354-27_4354-26insAAGGCTGGGGGGCT
NM_000257.3:c.4354-27_4354-26insAAGGCTGGGGGGCT (MYH7) NP_000248.2:n.4354-27_4354-26insAAGGCTGGGGGGCT
NR_126491.1:n.797_798insTAGCCCCCCAGCCT (MHRT)
XM_017021340.1:c.4354-27_4354-26insAAGGCTGGGGGGCT (MYH7) XP_016876829.1:n.4354-27_4354-26insAAGGCTGGGGGGCT
NM_000257.4:c.4354-27_4354-26insAAGGCTGGGGGGCT (MYH7) MANE Select NP_000248.2:n.4354-27_4354-26insAAGGCTGGGGGGCT
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