Canonical Allele Identifier: CA6199144

Gene: MYO7A

Linked Data

• dbSNP Id: rs768605677
• ExAC: 11:76925736 AAGTG / A
• gnomAD v2: 11-76925736-AAGTG-A
• MyVariant Identifiers: chr11:g.76925737_76925740del (hg19) ; chr11:g.77214692_77214695del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214693_77214696del , CM000673.2:g.77214693_77214696del	GRCh38
NC_000011.9:g.76925738_76925741del , CM000673.1:g.76925738_76925741del	GRCh37
NC_000011.8:g.76603386_76603389del	NCBI36
NG_009086.1:g.91429_91432del
NG_009086.2:g.91448_91451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6645_6648del MANE Select	ENSP00000386331.3:p.Ter2216GlnextTer?
ENST00000670577.1:c.4446_4449del
ENST00000409619.6:c.6498_6501del	ENSP00000386635.2:p.Ter2167GlnextTer?
ENST00000409709.7:c.6645_6648del	ENSP00000386331.3:p.Ter2216GlnextTer?
ENST00000458169.2:c.4071_4074del	ENSP00000417017.2:p.Ter1358GlnextTer?
ENST00000458637.6:c.6525_6528del	ENSP00000392185.2:p.Ter2176GlnextTer?
ENST00000481328.7:n.5195_5198del
ENST00000605744.1:n.2159_2162del
NM_000260.3:c.6645_6648del	NP_000251.3:p.Ter2216GlnextTer?
NM_001127180.1:c.6525_6528del	NP_001120652.1:p.Ter2176GlnextTer?
XM_005274012.2:c.6528_6531del	XP_005274069.1:p.Ter2177GlnextTer?
XM_006718561.2:c.6531_6534del	XP_006718624.1:p.Ter2178GlnextTer?
XR_949941.1:n.6939_6942del
XM_017017780.1:c.6735_6738del	XP_016873269.1:p.Ter2246GlnextTer?
XM_017017784.1:c.6618_6621del	XP_016873273.1:p.Ter2207GlnextTer?
XM_017017788.1:c.6621_6624del	XP_016873277.1:p.Ter2208GlnextTer?
XR_001747885.1:n.6724_6727del
XR_001747887.1:n.6710_6713del
NM_000260.4:c.6645_6648del MANE Select	NP_000251.3:p.Ter2216GlnextTer?
NM_001127180.2:c.6525_6528del	NP_001120652.1:p.Ter2176GlnextTer?
NM_001369365.1:c.6498_6501del	NP_001356294.1:p.Ter2167GlnextTer?