Canonical Allele Identifier: CA6199143

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 2756722
• ClinVar RCV Id: RCV003566932
• dbSNP Id: rs746828146
• ExAC: 11:76925730 AGCG / A
• gnomAD v2: 11-76925730-AGCG-A
• MyVariant Identifiers: chr11:g.76925731_76925733del (hg19) ; chr11:g.77214686_77214688del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214688_77214690del , CM000673.2:g.77214688_77214690del	GRCh38
NC_000011.9:g.76925733_76925735del , CM000673.1:g.76925733_76925735del	GRCh37
NC_000011.8:g.76603381_76603383del	NCBI36
NG_009086.1:g.91424_91426del
NG_009086.2:g.91443_91445del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6640_6642del MANE Select	ENSP00000386331.3:p.Gly2214del
ENST00000670577.1:c.4441_4443del
ENST00000409619.6:c.6493_6495del	ENSP00000386635.2:p.Gly2165del
ENST00000409709.7:c.6640_6642del	ENSP00000386331.3:p.Gly2214del
ENST00000458169.2:c.4066_4068del	ENSP00000417017.2:p.Gly1356del
ENST00000458637.6:c.6520_6522del	ENSP00000392185.2:p.Gly2174del
ENST00000481328.7:n.5190_5192del
ENST00000605744.1:n.2154_2156del
NM_000260.3:c.6640_6642del	NP_000251.3:p.Gly2214del
NM_001127180.1:c.6520_6522del	NP_001120652.1:p.Gly2174del
XM_005274012.2:c.6523_6525del	XP_005274069.1:p.Gly2175del
XM_006718561.2:c.6526_6528del	XP_006718624.1:p.Gly2176del
XR_949941.1:n.6934_6936del
XM_017017780.1:c.6730_6732del	XP_016873269.1:p.Gly2244del
XM_017017784.1:c.6613_6615del	XP_016873273.1:p.Gly2205del
XM_017017788.1:c.6616_6618del	XP_016873277.1:p.Gly2206del
XR_001747885.1:n.6719_6721del
XR_001747887.1:n.6705_6707del
NM_000260.4:c.6640_6642del MANE Select	NP_000251.3:p.Gly2214del
NM_001127180.2:c.6520_6522del	NP_001120652.1:p.Gly2174del
NM_001369365.1:c.6493_6495del	NP_001356294.1:p.Gly2165del