Canonical Allele Identifier: CA2624231911
Gene: MYH7 HGNC NCBI

Linked Data

gnomAD v4: 14-23420086-T-TTC
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420086_23420087insTC , CM000676.2:g.23420086_23420087insTC GRCh38
NC_000014.8:g.23889295_23889296insTC , CM000676.1:g.23889295_23889296insTC GRCh37
NC_000014.7:g.22959135_22959136insTC NCBI36
NG_007884.1:g.20575_20576insGA , LRG_384:g.20575_20576insGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3484_3485insGA MANE Select ENSP00000347507.3:p.Glu1162GlyfsTer3
ENST00000355349.3:c.3484_3485insGA ENSP00000347507.3:p.Glu1162GlyfsTer3
NM_000257.3:c.3484_3485insGA NP_000248.2:p.Glu1162GlyfsTer3
XM_017021340.1:c.3484_3485insGA XP_016876829.1:p.Glu1162GlyfsTer3
NM_000257.4:c.3484_3485insGA MANE Select NP_000248.2:p.Glu1162GlyfsTer3
Search 100 bp 5'
Search 100 bp 3'