Canonical Allele Identifier: CA5033174
Community Standard Title: NM_020702.5(MYORG):c.337_348dup (p.Leu113_Arg116dup)
Gene: MYORG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34372603_34372614dup , CM000671.2:g.34372603_34372614dup GRCh38
NC_000009.11:g.34372601_34372612dup , CM000671.1:g.34372601_34372612dup GRCh37
NC_000009.10:g.34362601_34362612dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_020702.5:c.337_348dup MANE Select NP_065753.2:p.Arg116_Ser117insLeuAlaPheArg
ENST00000297625.8:c.337_348dup MANE Select ENSP00000297625.8:p.Arg116_Ser117insLeuAlaPheArg
NM_020702.4:c.337_348dup NP_065753.2:p.Arg116_Ser117insLeuAlaPheArg
ENST00000297625.7:c.337_348dup ENSP00000297625.8:p.Arg116_Ser117insLeuAlaPheArg
ENST00000379142.3:c.216+10_216+21dup ENSP00000368437.2:n.216+10_216+21dup
XM_011517966.1:c.337_348dup XP_011516268.1:p.Arg116_Ser117insLeuAlaPheArg
XM_011517966.3:c.337_348dup XP_011516268.1:p.Arg116_Ser117insLeuAlaPheArg
XM_017014930.2:c.337_348dup XP_016870419.1:p.Arg116_Ser117insLeuAlaPheArg