Canonical Allele Identifier: CA2123452670
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423421_23423427delinsCTAAACA , CM000676.2:g.23423421_23423427delinsCTAAACA GRCh38
NC_000014.8:g.23892630_23892636delinsCTAAACA , CM000676.1:g.23892630_23892636delinsCTAAACA GRCh37
NC_000014.7:g.22962470_22962476delinsCTAAACA NCBI36
NG_007884.1:g.17235_17241delinsTGTTTAG , LRG_384:g.17235_17241delinsTGTTTAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3099+120_3099+126delinsTGTTTAG MANE Select ENSP00000347507.3:n.3099+120_3099+126delinsTGTTTAG
ENST00000355349.3:c.3099+120_3099+126delinsTGTTTAG ENSP00000347507.3:n.3099+120_3099+126delinsTGTTTAG
NM_000257.3:c.3099+120_3099+126delinsTGTTTAG NP_000248.2:n.3099+120_3099+126delinsTGTTTAG
XR_245686.3:n.3205+120_3205+126delinsTGTTTAG
XM_017021340.1:c.3099+120_3099+126delinsTGTTTAG XP_016876829.1:n.3099+120_3099+126delinsTGTTTAG
NM_000257.4:c.3099+120_3099+126delinsTGTTTAG MANE Select NP_000248.2:n.3099+120_3099+126delinsTGTTTAG
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