Canonical Allele Identifier: CA2624235145
Gene: MYH7 HGNC NCBI

Linked Data

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

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423433_23423434insGAAACACACACACA , CM000676.2:g.23423433_23423434insGAAACACACACACA GRCh38
NC_000014.8:g.23892642_23892643insGAAACACACACACA , CM000676.1:g.23892642_23892643insGAAACACACACACA GRCh37
NC_000014.7:g.22962482_22962483insGAAACACACACACA NCBI36
NG_007884.1:g.17231_17232insGTGTGTGTTTCTGT , LRG_384:g.17231_17232insGTGTGTGTTTCTGT

Transcript Alleles

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