Canonical Allele Identifier: CA2615269266

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77214684-G-GAGCAAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214687_77214688insAAACAGC , CM000673.2:g.77214687_77214688insAAACAGC	GRCh38
NC_000011.9:g.76925732_76925733insAAACAGC , CM000673.1:g.76925732_76925733insAAACAGC	GRCh37
NC_000011.8:g.76603380_76603381insAAACAGC	NCBI36
NG_009086.1:g.91423_91424insAAACAGC
NG_009086.2:g.91442_91443insAAACAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6639_6640insAAACAGC MANE Select	ENSP00000386331.3:p.Gly2214LysfsTer?
ENST00000670577.1:c.4440_4441insAAACAGC
ENST00000409619.6:c.6492_6493insAAACAGC	ENSP00000386635.2:p.Gly2165LysfsTer?
ENST00000409709.7:c.6639_6640insAAACAGC	ENSP00000386331.3:p.Gly2214LysfsTer?
ENST00000458169.2:c.4065_4066insAAACAGC	ENSP00000417017.2:p.Gly1356LysfsTer?
ENST00000458637.6:c.6519_6520insAAACAGC	ENSP00000392185.2:p.Gly2174LysfsTer?
ENST00000481328.7:n.5189_5190insAAACAGC
ENST00000605744.1:n.2153_2154insAAACAGC
NM_000260.3:c.6639_6640insAAACAGC	NP_000251.3:p.Gly2214LysfsTer?
NM_001127180.1:c.6519_6520insAAACAGC	NP_001120652.1:p.Gly2174LysfsTer?
XM_005274012.2:c.6522_6523insAAACAGC	XP_005274069.1:p.Gly2175LysfsTer?
XM_006718561.2:c.6525_6526insAAACAGC	XP_006718624.1:p.Gly2176LysfsTer?
XR_949941.1:n.6933_6934insAAACAGC
XM_017017780.1:c.6729_6730insAAACAGC	XP_016873269.1:p.Gly2244LysfsTer?
XM_017017784.1:c.6612_6613insAAACAGC	XP_016873273.1:p.Gly2205LysfsTer?
XM_017017788.1:c.6615_6616insAAACAGC	XP_016873277.1:p.Gly2206LysfsTer?
XR_001747885.1:n.6718_6719insAAACAGC
XR_001747887.1:n.6704_6705insAAACAGC
NM_000260.4:c.6639_6640insAAACAGC MANE Select	NP_000251.3:p.Gly2214LysfsTer?
NM_001127180.2:c.6519_6520insAAACAGC	NP_001120652.1:p.Gly2174LysfsTer?
NM_001369365.1:c.6492_6493insAAACAGC	NP_001356294.1:p.Gly2165LysfsTer?