Canonical Allele Identifier: CA1984131555

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214691_77214695delinsAAGTG , CM000673.2:g.77214691_77214695delinsAAGTG	GRCh38
NC_000011.9:g.76925736_76925740delinsAAGTG , CM000673.1:g.76925736_76925740delinsAAGTG	GRCh37
NC_000011.8:g.76603384_76603388delinsAAGTG	NCBI36
NG_009086.1:g.91427_91431delinsAAGTG
NG_009086.2:g.91446_91450delinsAAGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6643_6647delinsAAGTG MANE Select	ENSP00000386331.3:p.Lys2215=
ENST00000670577.1:c.4444_4448delinsAAGTG
ENST00000409619.6:c.6496_6500delinsAAGTG	ENSP00000386635.2:p.Lys2166=
ENST00000409709.7:c.6643_6647delinsAAGTG	ENSP00000386331.3:p.Lys2215=
ENST00000458169.2:c.4069_4073delinsAAGTG	ENSP00000417017.2:p.Lys1357=
ENST00000458637.6:c.6523_6527delinsAAGTG	ENSP00000392185.2:p.Lys2175=
ENST00000481328.7:n.5193_5197delinsAAGTG
ENST00000605744.1:n.2157_2161delinsAAGTG
NM_000260.3:c.6643_6647delinsAAGTG	NP_000251.3:p.Lys2215=
NM_001127180.1:c.6523_6527delinsAAGTG	NP_001120652.1:p.Lys2175=
XM_005274012.2:c.6526_6530delinsAAGTG	XP_005274069.1:p.Lys2176=
XM_006718561.2:c.6529_6533delinsAAGTG	XP_006718624.1:p.Lys2177=
XR_949941.1:n.6937_6941delinsAAGTG
XM_017017780.1:c.6733_6737delinsAAGTG	XP_016873269.1:p.Lys2245=
XM_017017784.1:c.6616_6620delinsAAGTG	XP_016873273.1:p.Lys2206=
XM_017017788.1:c.6619_6623delinsAAGTG	XP_016873277.1:p.Lys2207=
XR_001747885.1:n.6722_6726delinsAAGTG
XR_001747887.1:n.6708_6712delinsAAGTG
NM_000260.4:c.6643_6647delinsAAGTG MANE Select	NP_000251.3:p.Lys2215=
NM_001127180.2:c.6523_6527delinsAAGTG	NP_001120652.1:p.Lys2175=
NM_001369365.1:c.6496_6500delinsAAGTG	NP_001356294.1:p.Lys2166=