Canonical Allele Identifier: CA597667740

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17522886_17522891del , CM000673.2:g.17522886_17522891del	GRCh38
NC_000011.9:g.17544433_17544438del , CM000673.1:g.17544433_17544438del	GRCh37
NC_000011.8:g.17501009_17501014del	NCBI36
NG_011883.1:g.26529_26534del
NG_011883.2:g.26529_26534del

Transcript Alleles

HGVS	Amino-acid Change
NM_153676.4:c.915_920del MANE Select	NP_710142.1:p.Glu306_Ala307del
ENST00000005226.12:c.915_920del MANE Select	ENSP00000005226.7:p.Glu306_Ala307del
NM_005709.4:c.915_920del MANE Plus Clinical	NP_005700.2:p.Glu306_Ala307del
ENST00000318024.9:c.915_920del MANE Plus Clinical	ENSP00000317018.4:p.Glu306_Ala307del
NM_001297764.1:c.858_863del	NP_001284693.1:p.Glu287_Ala288del
NM_001297764.2:c.858_863del	NP_001284693.1:p.Glu287_Ala288del
NM_005709.3:c.915_920del	NP_005700.2:p.Glu306_Ala307del
NM_153676.3:c.915_920del	NP_710142.1:p.Glu306_Ala307del
NR_123738.1:n.1024_1029del
NR_123738.2:n.1024_1029del
ENST00000005226.11:c.915_920del	ENSP00000005226.7:p.Glu306_Ala307del
ENST00000318024.8:c.915_920del	ENSP00000317018.4:p.Glu306_Ala307del
ENST00000526181.1:c.948_953del	ENSP00000437128.1:p.Ala316_Glu317del
ENST00000526313.5:c.915_920del	ENSP00000432236.1:p.Glu306_Ala307del
ENST00000527020.5:c.858_863del	ENSP00000436934.1:p.Glu287_Ala288del
ENST00000527720.5:c.822_827del	ENSP00000432944.1:p.Glu275_Ala276del
XM_011519831.1:c.915_920del	XP_011518133.1:p.Glu306_Ala307del
XM_011519832.1:c.915_920del	XP_011518134.1:p.Glu306_Ala307del
XM_011519832.3:c.915_920del	XP_011518134.1:p.Glu306_Ala307del
XM_011519833.1:c.915_920del	XP_011518135.1:p.Glu306_Ala307del
XM_011519834.1:c.915_920del	XP_011518136.1:p.Glu306_Ala307del
XM_011519834.2:c.915_920del	XP_011518136.1:p.Glu306_Ala307del
XM_017017072.1:c.915_920del	XP_016872561.1:p.Glu306_Ala307del
XM_017017073.1:c.858_863del	XP_016872562.1:p.Glu287_Ala288del
XM_017017074.1:c.915_920del	XP_016872563.1:p.Glu306_Ala307del
XM_017017075.1:c.915_920del	XP_016872564.1:p.Glu306_Ala307del
XR_001747717.2:n.1024_1029del
XR_930841.1:n.1024_1029del
XR_930842.1:n.1024_1029del