Canonical Allele Identifier: CA177330

Gene: MYO3A

Linked Data

• ClinVar Variation Id: 164604
• ClinVar RCV Id: RCV000151456 ; RCV001539767
• dbSNP Id: rs112520797
• ExAC: 10:26286066 TTA / T
• gnomAD v2: 10-26286066-TTA-T
• gnomAD v3: 10-25997137-TTA-T
• gnomAD v4: 10-25997137-TTA-T
• MyVariant Identifiers: chr10:g.26286072_26286073del (hg19) ; chr10:g.26286067_26286068del (hg19) ; chr10:g.25997143_25997144del (hg38) ; chr10:g.25997139_25997140del (hg38) ; chr10:g.25997138_25997139del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.25997143_25997144del , CM000672.2:g.25997143_25997144del	GRCh38
NC_000010.10:g.26286072_26286073del , CM000672.1:g.26286072_26286073del	GRCh37
NC_000010.9:g.26326078_26326079del	NCBI36
NG_011635.1:g.68071_68072del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376301.2:n.420-16_420-15del
ENST00000642197.1:n.613-16_613-15del
ENST00000642920.2:c.409-16_409-15del MANE Select	ENSP00000495965.1:n.409-16_409-15del
ENST00000647478.1:c.409-16_409-15del	ENSP00000493932.1:n.409-16_409-15del
ENST00000265944.9:c.409-16_409-15del	ENSP00000265944.4:n.409-16_409-15del
ENST00000376301.1:c.409-16_409-15del	ENSP00000365478.1:n.409-16_409-15del
ENST00000376302.5:c.409-16_409-15del	ENSP00000365479.1:n.409-16_409-15del
ENST00000543632.5:c.409-16_409-15del	ENSP00000445909.1:n.409-16_409-15del
NM_017433.4:c.409-16_409-15del	NP_059129.3:n.409-16_409-15del
XM_011519498.1:c.409-16_409-15del	XP_011517800.1:n.409-16_409-15del
XM_011519499.1:c.409-16_409-15del	XP_011517801.1:n.409-16_409-15del
XM_011519500.1:c.409-16_409-15del	XP_011517802.1:n.409-16_409-15del
XM_011519501.1:c.409-16_409-15del	XP_011517803.1:n.409-16_409-15del
XM_011519502.1:c.409-16_409-15del	XP_011517804.1:n.409-16_409-15del
XM_011519503.1:c.409-16_409-15del	XP_011517805.1:n.409-16_409-15del
XM_011519504.1:c.409-16_409-15del	XP_011517806.1:n.409-16_409-15del
XM_011519505.1:c.409-16_409-15del	XP_011517807.1:n.409-16_409-15del
XM_011519506.1:c.409-16_409-15del	XP_011517808.1:n.409-16_409-15del
XM_011519507.1:c.46-16_46-15del	XP_011517809.1:n.46-16_46-15del
XM_011519508.1:c.409-16_409-15del	XP_011517810.1:n.409-16_409-15del
XM_011519509.1:c.409-16_409-15del	XP_011517811.1:n.409-16_409-15del
XM_011519510.1:c.409-16_409-15del	XP_011517812.1:n.409-16_409-15del
XM_011519511.1:c.409-16_409-15del	XP_011517813.1:n.409-16_409-15del
XR_930492.1:n.613-16_613-15del
XR_930493.1:n.613-16_613-15del
XR_930494.1:n.613-16_613-15del
XM_011519498.2:c.409-16_409-15del	XP_011517800.1:n.409-16_409-15del
XM_011519500.2:c.409-16_409-15del	XP_011517802.1:n.409-16_409-15del
XM_011519506.2:c.409-16_409-15del	XP_011517808.1:n.409-16_409-15del
XM_011519508.2:c.409-16_409-15del	XP_011517810.1:n.409-16_409-15del
XM_011519510.2:c.409-16_409-15del	XP_011517812.1:n.409-16_409-15del
XM_011519511.2:c.409-16_409-15del	XP_011517813.1:n.409-16_409-15del
XR_001747111.1:n.613-16_613-15del
NM_017433.5:c.409-16_409-15del MANE Select	NP_059129.3:n.409-16_409-15del
NM_001368265.1:c.409-16_409-15del	NP_001355194.1:n.409-16_409-15del