Canonical Allele Identifier: CA2624251096
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v4: 14-23431436-A-ATATAGACATATC
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431437_23431438insATAGACATATCT , CM000676.2:g.23431437_23431438insATAGACATATCT GRCh38
NC_000014.8:g.23900646_23900647insATAGACATATCT , CM000676.1:g.23900646_23900647insATAGACATATCT GRCh37
NC_000014.7:g.22970486_22970487insATAGACATATCT NCBI36
NG_007884.1:g.9225_9226insGATATGTCTATA , LRG_384:g.9225_9226insGATATGTCTATA

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.777_778insGATATGTCTATA MANE Select ENSP00000347507.3:p.Ala259_Ser260insAspMe...
ENST00000355349.3:c.777_778insGATATGTCTATA ENSP00000347507.3:p.Ala259_Ser260insAspMe...
NM_000257.3:c.777_778insGATATGTCTATA NP_000248.2:p.Ala259_Ser260insAspMetSerIl...
XR_245686.3:n.883_884insGATATGTCTATA
XM_017021340.1:c.777_778insGATATGTCTATA XP_016876829.1:p.Ala259_Ser260insAspMetSe...
NM_000257.4:c.777_778insGATATGTCTATA MANE Select NP_000248.2:p.Ala259_Ser260insAspMetSerIl...
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