Canonical Allele Identifier: CA2695219143
Gene: MYH7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429316_23429318delinsAAC , CM000676.2:g.23429316_23429318delinsAAC GRCh38
NC_000014.8:g.23898525_23898527delinsAAC , CM000676.1:g.23898525_23898527delinsAAC GRCh37
NC_000014.7:g.22968365_22968367delinsAAC NCBI36
NG_007884.1:g.11344_11346delinsGTT , LRG_384:g.11344_11346delinsGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1168_1170delinsGTT MANE Select ENSP00000347507.3:p.Leu390Val
ENST00000355349.3:c.1168_1170delinsGTT ENSP00000347507.3:p.Leu390Val
NM_000257.3:c.1168_1170delinsGTT NP_000248.2:p.Leu390Val
XR_245686.3:n.1274_1276delinsGTT
XM_017021340.1:c.1168_1170delinsGTT XP_016876829.1:p.Leu390Val
NM_000257.4:c.1168_1170delinsGTT MANE Select NP_000248.2:p.Leu390Val
Search 100 bp 5'
Search 100 bp 3'