Canonical Allele Identifier: CA600710785

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 1074848
• ClinVar RCV Id: RCV001388287
• dbSNP Id: rs1183407733
• gnomAD v2: 11-76910807-AG-A
• MyVariant Identifiers: chr11:g.76910808del (hg19) ; chr11:g.77199763del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77199766del , CM000673.2:g.77199766del	GRCh38
NC_000011.9:g.76910811del , CM000673.1:g.76910811del	GRCh37
NC_000011.8:g.76588459del	NCBI36
NG_009086.1:g.76502del
NG_009086.2:g.76521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.4800del MANE Select	ENSP00000386331.3:p.Leu1601SerfsTer?
ENST00000670577.1:c.2641del
ENST00000409619.6:c.4653del	ENSP00000386635.2:p.Leu1552SerfsTer?
ENST00000409709.7:c.4800del	ENSP00000386331.3:p.Leu1601SerfsTer?
ENST00000458169.2:c.2229del	ENSP00000417017.2:p.Leu744SerfsTer?
ENST00000458637.6:c.4686del	ENSP00000392185.2:p.Leu1563SerfsTer?
ENST00000481328.7:n.2339del
NM_000260.3:c.4800del	NP_000251.3:p.Leu1601SerfsTer?
NM_001127180.1:c.4686del	NP_001120652.1:p.Leu1563SerfsTer?
XM_005274012.2:c.4686del	XP_005274069.1:p.Leu1563SerfsTer?
XM_006718558.2:c.4794del	XP_006718621.1:p.Leu1599SerfsTer?
XM_006718559.2:c.4686del	XP_006718622.1:p.Leu1563SerfsTer?
XM_006718560.2:c.4686del	XP_006718623.1:p.Leu1563SerfsTer?
XM_006718561.2:c.4686del	XP_006718624.1:p.Leu1563SerfsTer?
XM_011545044.1:c.4800del	XP_011543346.1:p.Leu1601SerfsTer?
XM_011545045.1:c.4794del	XP_011543347.1:p.Leu1599SerfsTer?
XM_011545046.1:c.4767del	XP_011543348.1:p.Leu1590SerfsTer?
XM_011545047.1:c.4704del	XP_011543349.1:p.Leu1569SerfsTer?
XM_011545048.1:c.4575del	XP_011543350.1:p.Leu1526SerfsTer?
XM_011545049.1:c.4563del	XP_011543351.1:p.Leu1522SerfsTer?
XM_011545050.1:c.4536del	XP_011543352.1:p.Leu1513SerfsTer?
XM_011545051.1:c.4800del	XP_011543353.1:p.Leu1601SerfsTer?
XM_011545052.1:c.4800del	XP_011543354.1:p.Leu1601SerfsTer?
XR_949938.1:n.5120del
XR_949941.1:n.5120del
XR_949942.1:n.5122del
XM_011545044.2:c.4800del	XP_011543346.1:p.Leu1601SerfsTer?
XM_011545046.2:c.4890del	XP_011543348.2:p.Leu1631SerfsTer?
XM_011545050.2:c.4536del	XP_011543352.1:p.Leu1513SerfsTer?
XM_017017778.1:c.4884del	XP_016873267.1:p.Leu1629SerfsTer?
XM_017017779.1:c.4884del	XP_016873268.1:p.Leu1629SerfsTer?
XM_017017780.1:c.4890del	XP_016873269.1:p.Leu1631SerfsTer?
XM_017017781.1:c.4794del	XP_016873270.1:p.Leu1599SerfsTer?
XM_017017782.1:c.4776del	XP_016873271.1:p.Leu1593SerfsTer?
XM_017017783.1:c.4776del	XP_016873272.1:p.Leu1593SerfsTer?
XM_017017784.1:c.4776del	XP_016873273.1:p.Leu1593SerfsTer?
XM_017017785.1:c.4653del	XP_016873274.1:p.Leu1552SerfsTer?
XM_017017786.1:c.4890del	XP_016873275.1:p.Leu1631SerfsTer?
XM_017017788.1:c.4776del	XP_016873277.1:p.Leu1593SerfsTer?
XR_001747885.1:n.4905del
XR_001747886.1:n.4905del
XR_001747887.1:n.4905del
XR_001747888.1:n.4905del
NM_000260.4:c.4800del MANE Select	NP_000251.3:p.Leu1601SerfsTer?
NM_001127180.2:c.4686del	NP_001120652.1:p.Leu1563SerfsTer?
NM_001369365.1:c.4653del	NP_001356294.1:p.Leu1552SerfsTer?