Allele Registry

Canonical Allele Identifier: CA249013

Gene: MYO15A HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr17:g.18121784_18121791del

GRCh37 chr17:g.18025098_18025105del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000202813

ClinVar Variation:

218730

dbSNP:

864309607

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18121784_18121791del , CM000679.2:g.18121784_18121791del	GRCh38
NC_000017.10:g.18025098_18025105del , CM000679.1:g.18025098_18025105del	GRCh37
NC_000017.9:g.17965823_17965830del	NCBI36
NG_011634.1:g.18079_18086del
NG_011634.2:g.18079_18086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.2984_2991del MANE Select	ENSP00000495481.1:p.Glu995AlafsTer13
ENST00000205890.9:c.2984_2991del	ENSP00000205890.5:p.Glu995AlafsTer13
ENST00000583079.1:n.2617_2624del
ENST00000615845.4:c.2984_2991del	ENSP00000481642.1:p.Glu995AlafsTer13
NM_016239.3:c.2984_2991del	NP_057323.3:p.Glu995AlafsTer13
XM_011523917.1:c.2984_2991del	XP_011522219.1:p.Glu995AlafsTer13
XM_011523918.1:c.2984_2991del	XP_011522220.1:p.Glu995AlafsTer13
XM_011523919.1:c.2984_2991del	XP_011522221.1:p.Glu995AlafsTer13
XM_011523920.1:c.2984_2991del	XP_011522222.1:p.Glu995AlafsTer13
XM_011523921.1:c.2984_2991del	XP_011522223.1:p.Glu995AlafsTer13
XR_934037.1:n.3643_3650del
XR_934038.1:n.3643_3650del
XR_934039.1:n.3643_3650del
XM_011523918.2:c.2984_2991del	XP_011522220.1:p.Glu995AlafsTer13
XM_017024714.2:c.2984_2991del	XP_016880203.1:p.Glu995AlafsTer13
XM_017024715.2:c.2984_2991del	XP_016880204.1:p.Glu995AlafsTer13
XM_024450780.1:c.2984_2991del	XP_024306548.1:p.Glu995AlafsTer13
XM_024450781.1:c.2984_2991del	XP_024306549.1:p.Glu995AlafsTer13
XM_024450782.1:c.2984_2991del	XP_024306550.1:p.Glu995AlafsTer13
XR_934039.2:n.3682_3689del
NM_016239.4:c.2984_2991del MANE Select	NP_057323.3:p.Glu995AlafsTer13

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