Allele Registry

Canonical Allele Identifier: CA261770

Gene: MYO15A HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr17:g.18154142del

GRCh37 chr17:g.18057456del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000038989

ClinVar Variation:

45765

dbSNP:

397517287

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18154142del , CM000679.2:g.18154142del	GRCh38
NC_000017.10:g.18057456del , CM000679.1:g.18057456del	GRCh37
NC_000017.9:g.17998181del	NCBI36
NG_011634.1:g.50437del
NG_011634.2:g.50437del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644795.1:c.-109del	ENSP00000495720.1:n.-109del
ENST00000646782.1:n.255del
ENST00000647165.2:c.8100del MANE Select	ENSP00000495481.1:p.Lys2701ArgfsTer?
ENST00000651214.1:n.246del
ENST00000205890.9:c.8100del	ENSP00000205890.5:p.Lys2701ArgfsTer?
ENST00000418233.7:c.-109del	ENSP00000408800.3:n.-109del
ENST00000445289.6:n.89del
ENST00000536811.5:n.89del
ENST00000585180.1:c.-109del	ENSP00000464462.1:n.-109del
ENST00000615845.4:c.8100del	ENSP00000481642.1:p.Lys2701ArgfsTer?
NM_016239.3:c.8100del	NP_057323.3:p.Lys2701ArgfsTer?
XM_011523921.1:c.8094del	XP_011522223.1:p.Lys2699ArgfsTer?
XM_017024714.2:c.8040del	XP_016880203.1:p.Lys2681ArgfsTer?
XM_017024715.2:c.8103del	XP_016880204.1:p.Lys2702ArgfsTer?
XR_001752809.1:n.297+1del
XR_001752810.1:n.297+1del
NM_016239.4:c.8100del MANE Select	NP_057323.3:p.Lys2701ArgfsTer?

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