Canonical Allele Identifier: CA2624235151
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v4: 14-23423430-A-AACAGAAACACACACACAC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423433_23423434insGAAACACACACACACACA , CM000676.2:g.23423433_23423434insGAAACACACACACACACA GRCh38
NC_000014.8:g.23892642_23892643insGAAACACACACACACACA , CM000676.1:g.23892642_23892643insGAAACACACACACACACA GRCh37
NC_000014.7:g.22962482_22962483insGAAACACACACACACACA NCBI36
NG_007884.1:g.17231_17232insGTGTGTGTGTGTTTCTGT , LRG_384:g.17231_17232insGTGTGTGTGTGTTTCTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+116_3099+117insGTGTGTGTGTGTTTCTGT MANE Select ENSP00000347507.3:n.3099+116_3099+117insGTGTGTGTGTGTTTCTGT
ENST00000355349.3:c.3099+116_3099+117insGTGTGTGTGTGTTTCTGT ENSP00000347507.3:n.3099+116_3099+117insGTGTGTGTGTGTTTCTGT
NM_000257.3:c.3099+116_3099+117insGTGTGTGTGTGTTTCTGT NP_000248.2:n.3099+116_3099+117insGTGTGTGTGTGTTTCTGT
XR_245686.3:n.3205+116_3205+117insGTGTGTGTGTGTTTCTGT
XM_017021340.1:c.3099+116_3099+117insGTGTGTGTGTGTTTCTGT XP_016876829.1:n.3099+116_3099+117insGTGTGTGTGTGTTTCTGT
NM_000257.4:c.3099+116_3099+117insGTGTGTGTGTGTTTCTGT MANE Select NP_000248.2:n.3099+116_3099+117insGTGTGTGTGTGTTTCTGT
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