Canonical Allele Identifier: CA2580084906

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 2117909
• ClinVar RCV Id: RCV003039412

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211230del , CM000673.2:g.77211230del	GRCh38
NC_000011.9:g.76922275del , CM000673.1:g.76922275del	GRCh37
NC_000011.8:g.76599923del	NCBI36
NG_009086.1:g.87966del
NG_009086.2:g.87985del

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6130del MANE Select	ENSP00000386331.3:p.Val2044SerfsTer?
ENST00000670577.1:c.3931del
ENST00000409619.6:c.5983del	ENSP00000386635.2:p.Val1995SerfsTer?
ENST00000409709.7:c.6130del	ENSP00000386331.3:p.Val2044SerfsTer?
ENST00000458169.2:c.3556del	ENSP00000417017.2:p.Val1186SerfsTer?
ENST00000458637.6:c.6016del	ENSP00000392185.2:p.Val2006SerfsTer?
ENST00000481328.7:n.3666del
ENST00000526863.2:n.25+319del
ENST00000605744.1:n.1597del
NM_000260.3:c.6130del	NP_000251.3:p.Val2044SerfsTer?
NM_001127180.1:c.6016del	NP_001120652.1:p.Val2006SerfsTer?
XM_005274012.2:c.6013del	XP_005274069.1:p.Val2005SerfsTer?
XM_006718558.2:c.6121del	XP_006718621.1:p.Val2041SerfsTer?
XM_006718559.2:c.6016del	XP_006718622.1:p.Val2006SerfsTer?
XM_006718560.2:c.6013del	XP_006718623.1:p.Val2005SerfsTer?
XM_006718561.2:c.6016del	XP_006718624.1:p.Val2006SerfsTer?
XM_011545044.1:c.6130del	XP_011543346.1:p.Val2044SerfsTer?
XM_011545045.1:c.6124del	XP_011543347.1:p.Val2042SerfsTer?
XM_011545046.1:c.6097del	XP_011543348.1:p.Val2033SerfsTer?
XM_011545047.1:c.6034del	XP_011543349.1:p.Val2012SerfsTer?
XM_011545048.1:c.5905del	XP_011543350.1:p.Val1969SerfsTer?
XM_011545049.1:c.5893del	XP_011543351.1:p.Val1965SerfsTer?
XM_011545050.1:c.5866del	XP_011543352.1:p.Val1956SerfsTer?
XM_011545051.1:c.6130del	XP_011543353.1:p.Val2044SerfsTer?
XR_949938.1:n.6450del
XR_949941.1:n.6424del
XM_011545044.2:c.6130del	XP_011543346.1:p.Val2044SerfsTer?
XM_011545046.2:c.6220del	XP_011543348.2:p.Val2074SerfsTer?
XM_011545050.2:c.5866del	XP_011543352.1:p.Val1956SerfsTer?
XM_017017778.1:c.6214del	XP_016873267.1:p.Val2072SerfsTer?
XM_017017779.1:c.6211del	XP_016873268.1:p.Val2071SerfsTer?
XM_017017780.1:c.6220del	XP_016873269.1:p.Val2074SerfsTer?
XM_017017781.1:c.6124del	XP_016873270.1:p.Val2042SerfsTer?
XM_017017782.1:c.6106del	XP_016873271.1:p.Val2036SerfsTer?
XM_017017783.1:c.6103del	XP_016873272.1:p.Val2035SerfsTer?
XM_017017784.1:c.6103del	XP_016873273.1:p.Val2035SerfsTer?
XM_017017785.1:c.5983del	XP_016873274.1:p.Val1995SerfsTer?
XM_017017786.1:c.6220del	XP_016873275.1:p.Val2074SerfsTer?
XM_017017788.1:c.6106del	XP_016873277.1:p.Val2036SerfsTer?
XR_001747885.1:n.6209del
XR_001747886.1:n.6150del
XR_001747887.1:n.6195del
NM_000260.4:c.6130del MANE Select	NP_000251.3:p.Val2044SerfsTer?
NM_001127180.2:c.6016del	NP_001120652.1:p.Val2006SerfsTer?
NM_001369365.1:c.5983del	NP_001356294.1:p.Val1995SerfsTer?