Canonical Allele Identifier: CA2636447988
Gene: MYO15A HGNC NCBI

Linked Data

gnomAD v4: 17-18145945-A-AG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145949dup , CM000679.2:g.18145949dup GRCh38
NC_000017.10:g.18049263dup , CM000679.1:g.18049263dup GRCh37
NC_000017.9:g.17989988dup NCBI36
NG_011634.1:g.42244dup
NG_011634.2:g.42244dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6351dup MANE Select ENSP00000495481.1:p.Leu2118AlafsTer5
ENST00000205890.9:c.6351dup ENSP00000205890.5:p.Leu2118AlafsTer5
ENST00000615845.4:c.6351dup ENSP00000481642.1:p.Leu2118AlafsTer5
NM_016239.3:c.6351dup NP_057323.3:p.Leu2118AlafsTer5
XM_011523917.1:c.6291dup XP_011522219.1:p.Leu2098AlafsTer5
XM_011523918.1:c.6291dup XP_011522220.1:p.Leu2098AlafsTer5
XM_011523921.1:c.6345dup XP_011522223.1:p.Leu2116AlafsTer5
XR_934037.1:n.6950dup
XR_934038.1:n.6950dup
XM_011523918.2:c.6291dup XP_011522220.1:p.Leu2098AlafsTer5
XM_017024714.2:c.6291dup XP_016880203.1:p.Leu2098AlafsTer5
XM_017024715.2:c.6354dup XP_016880204.1:p.Leu2119AlafsTer5
XM_024450781.1:c.6213+1357dup XP_024306549.1:n.6213+1357dup
NM_016239.4:c.6351dup MANE Select NP_057323.3:p.Leu2118AlafsTer5
Search 100 bp 5'
Search 100 bp 3'