Canonical Allele Identifier: CA2636451621

Gene: MYO15A

Linked Data

• ClinVar Variation Id: 2771774
• ClinVar RCV Id: RCV003574429
• gnomAD v4: 17-18124576-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18124579del , CM000679.2:g.18124579del	GRCh38
NC_000017.10:g.18027893del , CM000679.1:g.18027893del	GRCh37
NC_000017.9:g.17968618del	NCBI36
NG_011634.1:g.20874del
NG_011634.2:g.20874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.3692+14del MANE Select	ENSP00000495481.1:n.3692+14del
ENST00000205890.9:c.3692+14del	ENSP00000205890.5:n.3692+14del
ENST00000583079.1:n.5412del
ENST00000615845.4:c.3692+14del	ENSP00000481642.1:n.3692+14del
NM_016239.3:c.3692+14del	NP_057323.3:n.3692+14del
XM_011523917.1:c.3692+14del	XP_011522219.1:n.3692+14del
XM_011523918.1:c.3692+14del	XP_011522220.1:n.3692+14del
XM_011523919.1:c.3692+14del	XP_011522221.1:n.3692+14del
XM_011523920.1:c.3692+14del	XP_011522222.1:n.3692+14del
XM_011523921.1:c.3692+14del	XP_011522223.1:n.3692+14del
XR_934037.1:n.4351+14del
XR_934038.1:n.4351+14del
XR_934039.1:n.4351+14del
XM_011523918.2:c.3692+14del	XP_011522220.1:n.3692+14del
XM_017024714.2:c.3692+14del	XP_016880203.1:n.3692+14del
XM_017024715.2:c.3692+14del	XP_016880204.1:n.3692+14del
XM_024450780.1:c.3692+14del	XP_024306548.1:n.3692+14del
XM_024450781.1:c.3692+14del	XP_024306549.1:n.3692+14del
XM_024450782.1:c.3692+14del	XP_024306550.1:n.3692+14del
XR_934039.2:n.4390+14del
NM_016239.4:c.3692+14del MANE Select	NP_057323.3:n.3692+14del