Canonical Allele Identifier: CA16621703
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 425126
ClinVar RCV Id: RCV000488381
dbSNP Id: rs1064797218

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18138188_18138192dup , CM000679.2:g.18138188_18138192dup GRCh38
NC_000017.10:g.18041502_18041506dup , CM000679.1:g.18041502_18041506dup GRCh37
NC_000017.9:g.17982227_17982231dup NCBI36
NG_011634.1:g.34483_34487dup
NG_011634.2:g.34483_34487dup

Transcript Alleles

HGVS Amino-acid change
ENST00000646238.1:n.213_217dup
ENST00000647165.2:c.4949_4953dup MANE Select ENSP00000495481.1:p.Leu1652SerfsTer3
ENST00000205890.9:c.4949_4953dup ENSP00000205890.5:p.Leu1652SerfsTer3
ENST00000615845.4:c.4949_4953dup ENSP00000481642.1:p.Leu1652SerfsTer3
NM_016239.3:c.4949_4953dup NP_057323.3:p.Leu1652SerfsTer3
XM_011523917.1:c.4943_4947dup XP_011522219.1:p.Leu1650SerfsTer3
XM_011523918.1:c.4943_4947dup XP_011522220.1:p.Leu1650SerfsTer3
XM_011523919.1:c.4943_4947dup XP_011522221.1:p.Leu1650SerfsTer3
XM_011523920.1:c.4943_4947dup XP_011522222.1:p.Leu1650SerfsTer3
XM_011523921.1:c.4943_4947dup XP_011522223.1:p.Leu1650SerfsTer3
XR_934037.1:n.5602_5606dup
XR_934038.1:n.5602_5606dup
XR_934039.1:n.5602_5606dup
XM_011523918.2:c.4943_4947dup XP_011522220.1:p.Leu1650SerfsTer3
XM_017024714.2:c.4943_4947dup XP_016880203.1:p.Leu1650SerfsTer3
XM_017024715.2:c.4952_4956dup XP_016880204.1:p.Leu1653SerfsTer3
XM_024450780.1:c.4943_4947dup XP_024306548.1:p.Leu1650SerfsTer3
XM_024450781.1:c.4943_4947dup XP_024306549.1:p.Leu1650SerfsTer3
XM_024450782.1:c.4943_4947dup XP_024306550.1:p.Leu1650SerfsTer3
XR_934039.2:n.5641_5645dup
NM_016239.4:c.4949_4953dup MANE Select NP_057323.3:p.Leu1652SerfsTer3