Canonical Allele Identifier: CA8423510

Gene: MYO15A

Linked Data

• ClinVar Variation Id: 2995129
• ClinVar RCV Id: RCV003850736
• dbSNP Id: rs759480416
• ExAC: 17:18027779 CCT / C
• gnomAD v2: 17-18027779-CCT-C
• gnomAD v3: 17-18124465-CCT-C
• gnomAD v4: 17-18124465-CCT-C
• COSMIC: COSN20123222
• MyVariant Identifiers: chr17:g.18027782_18027783del (hg19) ; chr17:g.18027780_18027781del (hg19) ; chr17:g.18124466_18124467del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18124475_18124476del , CM000679.2:g.18124475_18124476del	GRCh38
NC_000017.10:g.18027789_18027790del , CM000679.1:g.18027789_18027790del	GRCh37
NC_000017.9:g.17968514_17968515del	NCBI36
NG_011634.1:g.20770_20771del
NG_011634.2:g.20770_20771del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647165.2:c.3610-8_3610-7del MANE Select	ENSP00000495481.1:n.3610-8_3610-7del
ENST00000651088.1:c.151-8_151-7del	ENSP00000498988.1:n.151-8_151-7del
ENST00000205890.9:c.3610-8_3610-7del	ENSP00000205890.5:n.3610-8_3610-7del
ENST00000583079.1:n.5308_5309del
ENST00000615845.4:c.3610-8_3610-7del	ENSP00000481642.1:n.3610-8_3610-7del
NM_016239.3:c.3610-8_3610-7del	NP_057323.3:n.3610-8_3610-7del
XM_011523917.1:c.3610-8_3610-7del	XP_011522219.1:n.3610-8_3610-7del
XM_011523918.1:c.3610-8_3610-7del	XP_011522220.1:n.3610-8_3610-7del
XM_011523919.1:c.3610-8_3610-7del	XP_011522221.1:n.3610-8_3610-7del
XM_011523920.1:c.3610-8_3610-7del	XP_011522222.1:n.3610-8_3610-7del
XM_011523921.1:c.3610-8_3610-7del	XP_011522223.1:n.3610-8_3610-7del
XR_934037.1:n.4269-8_4269-7del
XR_934038.1:n.4269-8_4269-7del
XR_934039.1:n.4269-8_4269-7del
XM_011523918.2:c.3610-8_3610-7del	XP_011522220.1:n.3610-8_3610-7del
XM_017024714.2:c.3610-8_3610-7del	XP_016880203.1:n.3610-8_3610-7del
XM_017024715.2:c.3610-8_3610-7del	XP_016880204.1:n.3610-8_3610-7del
XM_024450780.1:c.3610-8_3610-7del	XP_024306548.1:n.3610-8_3610-7del
XM_024450781.1:c.3610-8_3610-7del	XP_024306549.1:n.3610-8_3610-7del
XM_024450782.1:c.3610-8_3610-7del	XP_024306550.1:n.3610-8_3610-7del
XR_934039.2:n.4308-8_4308-7del
NM_016239.4:c.3610-8_3610-7del MANE Select	NP_057323.3:n.3610-8_3610-7del