Canonical Allele Identifier: CA2624234791
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

gnomAD v4: 14-23416316-G-GCCTCCTCCAGGGCT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416316_23416317insCCTCCTCCAGGGCT , CM000676.2:g.23416316_23416317insCCTCCTCCAGGGCT GRCh38
NC_000014.8:g.23885525_23885526insCCTCCTCCAGGGCT , CM000676.1:g.23885525_23885526insCCTCCTCCAGGGCT GRCh37
NC_000014.7:g.22955365_22955366insCCTCCTCCAGGGCT NCBI36
NG_007884.1:g.24345_24346insAGCCCTGGAGGAGG , LRG_384:g.24345_24346insAGCCCTGGAGGAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4645-5_4645-4insAGCCCTGGAGGAGG (MYH7) MANE Select ENSP00000347507.3:n.4645-5_4645-4insAGCCCTGGAGGAGG
ENST00000355349.3:c.4645-5_4645-4insAGCCCTGGAGGAGG (MYH7) ENSP00000347507.3:n.4645-5_4645-4insAGCCCTGGAGGAGG
NM_000257.3:c.4645-5_4645-4insAGCCCTGGAGGAGG (MYH7) NP_000248.2:n.4645-5_4645-4insAGCCCTGGAGGAGG
NR_126491.1:n.558+19_558+20insCCTCCTCCAGGGCT (MHRT)
XM_017021340.1:c.4645-5_4645-4insAGCCCTGGAGGAGG (MYH7) XP_016876829.1:n.4645-5_4645-4insAGCCCTGGAGGAGG
NM_000257.4:c.4645-5_4645-4insAGCCCTGGAGGAGG (MYH7) MANE Select NP_000248.2:n.4645-5_4645-4insAGCCCTGGAGGAGG
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