Canonical Allele Identifier: CA1955186948

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17527115_17527159delinsTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCC , CM000673.2:g.17527115_17527159delinsTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCC	GRCh38
NC_000011.9:g.17548662_17548706delinsTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCC , CM000673.1:g.17548662_17548706delinsTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCC	GRCh37
NC_000011.8:g.17505238_17505282delinsTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCC	NCBI36
NG_011883.1:g.22258_22302delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA
NG_011883.2:g.22258_22302delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA MANE Select	ENSP00000005226.7:n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGG...
ENST00000318024.9:c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA MANE Plus Clinical	ENSP00000317018.4:n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGG...
ENST00000005226.11:c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA	ENSP00000005226.7:n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGG...
ENST00000318024.8:c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA	ENSP00000317018.4:n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGG...
ENST00000526181.1:c.529+64_530-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA	ENSP00000437128.1:n.529+64_530-75delinsGGGCAGTACTCCATGACGGTGG...
ENST00000526313.5:c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA	ENSP00000432236.1:n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGG...
ENST00000527020.5:c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA	ENSP00000436934.1:n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGG...
ENST00000527720.5:c.403+64_404-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA	ENSP00000432944.1:n.403+64_404-75delinsGGGCAGTACTCCATGACGGTGG...
NM_001297764.1:c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA	NP_001284693.1:n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAG...
NM_005709.3:c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA	NP_005700.2:n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGA...
NM_153676.3:c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA	NP_710142.1:n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGA...
NR_123738.1:n.605+64_606-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA
XM_011519831.1:c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA	XP_011518133.1:n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAG...
XM_011519832.1:c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA	XP_011518134.1:n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAG...
XM_011519833.1:c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA	XP_011518135.1:n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAG...
XM_011519834.1:c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA	XP_011518136.1:n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAG...
XR_930841.1:n.605+64_606-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA
XR_930842.1:n.605+64_606-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA
XM_011519832.3:c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA	XP_011518134.1:n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAG...
XM_011519834.2:c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA	XP_011518136.1:n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAG...
XM_017017072.1:c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA	XP_016872561.1:n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAG...
XM_017017073.1:c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA	XP_016872562.1:n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAG...
XM_017017074.1:c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA	XP_016872563.1:n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAG...
XM_017017075.1:c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA	XP_016872564.1:n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAG...
XR_001747717.2:n.605+64_606-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA
NM_153676.4:c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA MANE Select	NP_710142.1:n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGA...
NM_001297764.2:c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA	NP_001284693.1:n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAG...
NM_005709.4:c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA MANE Plus Clinical	NP_005700.2:n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGA...
NR_123738.2:n.605+64_606-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA