Canonical Allele Identifier: CA2697559424
Community Standard Title: NM_002470.4(MYH3):c.5738_5739delinsGT (p.Ile1913Ser)
Gene: MYH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10629654_10629655delinsAC , CM000679.2:g.10629654_10629655delinsAC GRCh38
NC_000017.10:g.10532971_10532972delinsAC , CM000679.1:g.10532971_10532972delinsAC GRCh37
NC_000017.9:g.10473696_10473697delinsAC NCBI36
NG_011537.1:g.32644_32645delinsGT

Transcript Alleles

HGVS Amino-acid Change
NM_002470.4:c.5738_5739delinsGT MANE Select NP_002461.2:p.Ile1913Ser
ENST00000583535.6:c.5738_5739delinsGT MANE Select ENSP00000464317.1:p.Ile1913Ser
NM_002470.3:c.5738_5739delinsGT NP_002461.2:p.Ile1913Ser
ENST00000577963.1:n.280_281delinsGT
ENST00000579928.2:n.268_269delinsGT
ENST00000583535.5:c.5738_5739delinsGT ENSP00000464317.1:p.Ile1913Ser
XM_011523870.1:c.5738_5739delinsGT XP_011522172.1:p.Ile1913Ser
XM_011523870.3:c.5738_5739delinsGT XP_011522172.1:p.Ile1913Ser
XM_011523871.1:c.5738_5739delinsGT XP_011522173.1:p.Ile1913Ser
XM_011523871.2:c.5738_5739delinsGT XP_011522173.1:p.Ile1913Ser