Canonical Allele Identifier: CA2580084952

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77181524_77181525insGTATAAGAGACAG , CM000673.2:g.77181524_77181525insGTATAAGAGACAG	GRCh38
NC_000011.9:g.76892570_76892571insGTATAAGAGACAG , CM000673.1:g.76892570_76892571insGTATAAGAGACAG	GRCh37
NC_000011.8:g.76570218_76570219insGTATAAGAGACAG	NCBI36
NG_009086.1:g.58261_58262insGTATAAGAGACAG
NG_009086.2:g.58279_58280insGTATAAGAGACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.2839_2840insGTATAAGAGACAG MANE Select	ENSP00000386331.3:p.Phe947CysfsTer23
ENST00000409893.6:c.904_905insGTATAAGAGACAG	ENSP00000386689.2:p.Phe302CysfsTer23
ENST00000670577.1:c.680_681insGTATAAGAGACAG
ENST00000409619.6:c.2806_2807insGTATAAGAGACAG	ENSP00000386635.2:p.Phe936CysfsTer23
ENST00000409709.7:c.2839_2840insGTATAAGAGACAG	ENSP00000386331.3:p.Phe947CysfsTer23
ENST00000409893.5:c.2839_2840insGTATAAGAGACAG	ENSP00000386689.1:p.Phe947CysfsTer23
ENST00000458169.2:c.382_383insGTATAAGAGACAG	ENSP00000417017.2:p.Phe128CysfsTer23
ENST00000458637.6:c.2839_2840insGTATAAGAGACAG	ENSP00000392185.2:p.Phe947CysfsTer23
ENST00000481328.7:n.382_383insGTATAAGAGACAG
ENST00000620575.4:c.2839_2840insGTATAAGAGACAG	ENSP00000477640.1:p.Phe947CysfsTer23
NM_000260.3:c.2839_2840insGTATAAGAGACAG	NP_000251.3:p.Phe947CysfsTer23
NM_001127179.2:c.2839_2840insGTATAAGAGACAG	NP_001120651.2:p.Phe947CysfsTer23
NM_001127180.1:c.2839_2840insGTATAAGAGACAG	NP_001120652.1:p.Phe947CysfsTer23
XM_005274012.2:c.2839_2840insGTATAAGAGACAG	XP_005274069.1:p.Phe947CysfsTer23
XM_006718558.2:c.2839_2840insGTATAAGAGACAG	XP_006718621.1:p.Phe947CysfsTer23
XM_006718559.2:c.2839_2840insGTATAAGAGACAG	XP_006718622.1:p.Phe947CysfsTer23
XM_006718560.2:c.2839_2840insGTATAAGAGACAG	XP_006718623.1:p.Phe947CysfsTer23
XM_006718561.2:c.2839_2840insGTATAAGAGACAG	XP_006718624.1:p.Phe947CysfsTer23
XM_011545044.1:c.2839_2840insGTATAAGAGACAG	XP_011543346.1:p.Phe947CysfsTer23
XM_011545045.1:c.2839_2840insGTATAAGAGACAG	XP_011543347.1:p.Phe947CysfsTer23
XM_011545046.1:c.2806_2807insGTATAAGAGACAG	XP_011543348.1:p.Phe936CysfsTer23
XM_011545047.1:c.2839_2840insGTATAAGAGACAG	XP_011543349.1:p.Phe947CysfsTer23
XM_011545048.1:c.2620_2621insGTATAAGAGACAG	XP_011543350.1:p.Phe874CysfsTer23
XM_011545049.1:c.2608_2609insGTATAAGAGACAG	XP_011543351.1:p.Phe870CysfsTer23
XM_011545050.1:c.2581_2582insGTATAAGAGACAG	XP_011543352.1:p.Phe861CysfsTer23
XM_011545051.1:c.2839_2840insGTATAAGAGACAG	XP_011543353.1:p.Phe947CysfsTer23
XM_011545052.1:c.2839_2840insGTATAAGAGACAG	XP_011543354.1:p.Phe947CysfsTer23
XR_949938.1:n.3159_3160insGTATAAGAGACAG
XR_949941.1:n.3159_3160insGTATAAGAGACAG
XR_949942.1:n.3161_3162insGTATAAGAGACAG
XR_949943.1:n.3161_3162insGTATAAGAGACAG
XM_011545044.2:c.2839_2840insGTATAAGAGACAG	XP_011543346.1:p.Phe947CysfsTer23
XM_011545046.2:c.2929_2930insGTATAAGAGACAG	XP_011543348.2:p.Phe977CysfsTer23
XM_011545050.2:c.2581_2582insGTATAAGAGACAG	XP_011543352.1:p.Phe861CysfsTer23
XM_017017778.1:c.2929_2930insGTATAAGAGACAG	XP_016873267.1:p.Phe977CysfsTer23
XM_017017779.1:c.2929_2930insGTATAAGAGACAG	XP_016873268.1:p.Phe977CysfsTer23
XM_017017780.1:c.2929_2930insGTATAAGAGACAG	XP_016873269.1:p.Phe977CysfsTer23
XM_017017781.1:c.2929_2930insGTATAAGAGACAG	XP_016873270.1:p.Phe977CysfsTer23
XM_017017782.1:c.2929_2930insGTATAAGAGACAG	XP_016873271.1:p.Phe977CysfsTer23
XM_017017783.1:c.2929_2930insGTATAAGAGACAG	XP_016873272.1:p.Phe977CysfsTer23
XM_017017784.1:c.2929_2930insGTATAAGAGACAG	XP_016873273.1:p.Phe977CysfsTer23
XM_017017785.1:c.2698_2699insGTATAAGAGACAG	XP_016873274.1:p.Phe900CysfsTer23
XM_017017786.1:c.2929_2930insGTATAAGAGACAG	XP_016873275.1:p.Phe977CysfsTer23
XM_017017787.1:c.2929_2930insGTATAAGAGACAG	XP_016873276.1:p.Phe977CysfsTer23
XM_017017788.1:c.2929_2930insGTATAAGAGACAG	XP_016873277.1:p.Phe977CysfsTer23
XR_001747885.1:n.2944_2945insGTATAAGAGACAG
XR_001747886.1:n.2944_2945insGTATAAGAGACAG
XR_001747887.1:n.2944_2945insGTATAAGAGACAG
XR_001747888.1:n.2944_2945insGTATAAGAGACAG
XR_001747889.1:n.2944_2945insGTATAAGAGACAG
NM_000260.4:c.2839_2840insGTATAAGAGACAG MANE Select	NP_000251.3:p.Phe947CysfsTer23
NM_001127180.2:c.2839_2840insGTATAAGAGACAG	NP_001120652.1:p.Phe947CysfsTer23
NM_001369365.1:c.2806_2807insGTATAAGAGACAG	NP_001356294.1:p.Phe936CysfsTer23