Canonical Allele Identifier: CA625315103

Gene: MYO15A

Linked Data

• dbSNP Id: rs1264227821
• gnomAD v2: 17-18049168-ACT-A
• gnomAD v3: 17-18145854-ACT-A
• gnomAD v4: 17-18145854-ACT-A
• MyVariant Identifiers: chr17:g.18049169_18049170del (hg19) ; chr17:g.18145855_18145856del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18145857_18145858del , CM000679.2:g.18145857_18145858del	GRCh38
NC_000017.10:g.18049171_18049172del , CM000679.1:g.18049171_18049172del	GRCh37
NC_000017.9:g.17989896_17989897del	NCBI36
NG_011634.1:g.42152_42153del
NG_011634.2:g.42152_42153del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647165.2:c.6274-15_6274-14del MANE Select	ENSP00000495481.1:n.6274-15_6274-14del
ENST00000205890.9:c.6274-15_6274-14del	ENSP00000205890.5:n.6274-15_6274-14del
ENST00000615845.4:c.6274-15_6274-14del	ENSP00000481642.1:n.6274-15_6274-14del
NM_016239.3:c.6274-15_6274-14del	NP_057323.3:n.6274-15_6274-14del
XM_011523917.1:c.6214-15_6214-14del	XP_011522219.1:n.6214-15_6214-14del
XM_011523918.1:c.6214-15_6214-14del	XP_011522220.1:n.6214-15_6214-14del
XM_011523921.1:c.6268-15_6268-14del	XP_011522223.1:n.6268-15_6268-14del
XR_934037.1:n.6873-15_6873-14del
XR_934038.1:n.6873-15_6873-14del
XM_011523918.2:c.6214-15_6214-14del	XP_011522220.1:n.6214-15_6214-14del
XM_017024714.2:c.6214-15_6214-14del	XP_016880203.1:n.6214-15_6214-14del
XM_017024715.2:c.6277-15_6277-14del	XP_016880204.1:n.6277-15_6277-14del
XM_024450781.1:c.6213+1265_6213+1266del	XP_024306549.1:n.6213+1265_6213+1266del
NM_016239.4:c.6274-15_6274-14del MANE Select	NP_057323.3:n.6274-15_6274-14del