Canonical Allele Identifier: CA981984668

Gene: MYO15A

Linked Data

• gnomAD v3: 17-18138193-C-CCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT
• gnomAD v4: 17-18138193-C-CCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18138193_18138194insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT , CM000679.2:g.18138193_18138194insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT	GRCh38
NC_000017.10:g.18041507_18041508insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT , CM000679.1:g.18041507_18041508insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT	GRCh37
NC_000017.9:g.17982232_17982233insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT	NCBI36
NG_011634.1:g.34488_34489insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT
NG_011634.2:g.34488_34489insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646238.1:n.218_219insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT
ENST00000647165.2:c.4954_4955insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT MANE Select	ENSP00000495481.1:p.Leu1652ProfsTer2
ENST00000205890.9:c.4954_4955insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT	ENSP00000205890.5:p.Leu1652ProfsTer2
ENST00000615845.4:c.4954_4955insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT	ENSP00000481642.1:p.Leu1652ProfsTer2
NM_016239.3:c.4954_4955insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT	NP_057323.3:p.Leu1652ProfsTer2
XM_011523917.1:c.4948_4949insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT	XP_011522219.1:p.Leu1650ProfsTer2
XM_011523918.1:c.4948_4949insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT	XP_011522220.1:p.Leu1650ProfsTer2
XM_011523919.1:c.4948_4949insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT	XP_011522221.1:p.Leu1650ProfsTer2
XM_011523920.1:c.4948_4949insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT	XP_011522222.1:p.Leu1650ProfsTer2
XM_011523921.1:c.4948_4949insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT	XP_011522223.1:p.Leu1650ProfsTer2
XR_934037.1:n.5607_5608insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT
XR_934038.1:n.5607_5608insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT
XR_934039.1:n.5607_5608insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT
XM_011523918.2:c.4948_4949insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT	XP_011522220.1:p.Leu1650ProfsTer2
XM_017024714.2:c.4948_4949insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT	XP_016880203.1:p.Leu1650ProfsTer2
XM_017024715.2:c.4957_4958insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT	XP_016880204.1:p.Leu1653ProfsTer2
XM_024450780.1:c.4948_4949insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT	XP_024306548.1:p.Leu1650ProfsTer2
XM_024450781.1:c.4948_4949insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT	XP_024306549.1:p.Leu1650ProfsTer2
XM_024450782.1:c.4948_4949insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT	XP_024306550.1:p.Leu1650ProfsTer2
XR_934039.2:n.5646_5647insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT
NM_016239.4:c.4954_4955insCATAAGGCTTCAACCAGCCCTGCATCAACCTCATCTCAT MANE Select	NP_057323.3:p.Leu1652ProfsTer2