Canonical Allele Identifier: CA2636437323
Community Standard Title: NM_016239.4(MYO15A):c.7005_7006del (p.Gln2336AlafsTer10)
Gene: MYO15A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18149264_18149265del , CM000679.2:g.18149264_18149265del GRCh38
NC_000017.10:g.18052578_18052579del , CM000679.1:g.18052578_18052579del GRCh37
NC_000017.9:g.17993303_17993304del NCBI36
NG_011634.1:g.45559_45560del
NG_011634.2:g.45559_45560del

Transcript Alleles

HGVS Amino-acid Change
NM_016239.4:c.7005_7006del MANE Select NP_057323.3:p.Gln2336AlafsTer10
ENST00000647165.2:c.7005_7006del MANE Select ENSP00000495481.1:p.Gln2336AlafsTer10
NM_016239.3:c.7005_7006del NP_057323.3:p.Gln2336AlafsTer10
ENST00000205890.9:c.7005_7006del ENSP00000205890.5:p.Gln2336AlafsTer10
ENST00000578999.1:n.517_518del
ENST00000615845.4:c.7005_7006del ENSP00000481642.1:p.Gln2336AlafsTer10
XM_011523917.1:c.6680_6681del XP_011522219.1:p.Pro2227GlnfsTer?
XM_011523921.1:c.6999_7000del XP_011522223.1:p.Gln2334AlafsTer10
XM_017024714.2:c.6945_6946del XP_016880203.1:p.Gln2316AlafsTer10
XM_017024715.2:c.7008_7009del XP_016880204.1:p.Gln2337AlafsTer10
XR_934037.1:n.7339_7340del
XR_934038.1:n.7339_7340del
XR_934293.1:n.435-1657_435-1656del
XR_934293.2:n.378-1657_378-1656del
XR_934295.1:n.254-1657_254-1656del