Canonical Allele Identifier: CA935547305

Gene: USH1C

Linked Data

• dbSNP Id: rs2133898324
• gnomAD v3: 11-17527111-G-GCCCTGCTCCCCCGCCCTCCCTCCCTCCC
• gnomAD v4: 11-17527111-G-GCCCTGCTCCCCCGCCCTCCCTCCCTCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17527111_17527112insCCCTGCTCCCCCGCCCTCCCTCCCTCCC , CM000673.2:g.17527111_17527112insCCCTGCTCCCCCGCCCTCCCTCCCTCCC	GRCh38
NC_000011.9:g.17548658_17548659insCCCTGCTCCCCCGCCCTCCCTCCCTCCC , CM000673.1:g.17548658_17548659insCCCTGCTCCCCCGCCCTCCCTCCCTCCC	GRCh37
NC_000011.8:g.17505234_17505235insCCCTGCTCCCCCGCCCTCCCTCCCTCCC	NCBI36
NG_011883.1:g.22305_22306insGGGAGGGAGGGAGGGCGGGGGAGCAGGG
NG_011883.2:g.22305_22306insGGGAGGGAGGGAGGGCGGGGGAGCAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG MANE Select	ENSP00000005226.7:n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCA...
ENST00000318024.9:c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG MANE Plus Clinical	ENSP00000317018.4:n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCA...
ENST00000005226.11:c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG	ENSP00000005226.7:n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCA...
ENST00000318024.8:c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG	ENSP00000317018.4:n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCA...
ENST00000526181.1:c.530-72_530-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG	ENSP00000437128.1:n.530-72_530-71insGGGAGGGAGGGAGGGCGGGGGAGCA...
ENST00000526313.5:c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG	ENSP00000432236.1:n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCA...
ENST00000527020.5:c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG	ENSP00000436934.1:n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCA...
ENST00000527720.5:c.404-72_404-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG	ENSP00000432944.1:n.404-72_404-71insGGGAGGGAGGGAGGGCGGGGGAGCA...
NM_001297764.1:c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG	NP_001284693.1:n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG...
NM_005709.3:c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG	NP_005700.2:n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG
NM_153676.3:c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG	NP_710142.1:n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG
NR_123738.1:n.606-72_606-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG
XM_011519831.1:c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG	XP_011518133.1:n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG...
XM_011519832.1:c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG	XP_011518134.1:n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG...
XM_011519833.1:c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG	XP_011518135.1:n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG...
XM_011519834.1:c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG	XP_011518136.1:n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG...
XR_930841.1:n.606-72_606-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG
XR_930842.1:n.606-72_606-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG
XM_011519832.3:c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG	XP_011518134.1:n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG...
XM_011519834.2:c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG	XP_011518136.1:n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG...
XM_017017072.1:c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG	XP_016872561.1:n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG...
XM_017017073.1:c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG	XP_016872562.1:n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG...
XM_017017074.1:c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG	XP_016872563.1:n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG...
XM_017017075.1:c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG	XP_016872564.1:n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG...
XR_001747717.2:n.606-72_606-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG
NM_153676.4:c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG MANE Select	NP_710142.1:n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG
NM_001297764.2:c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG	NP_001284693.1:n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG...
NM_005709.4:c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG MANE Plus Clinical	NP_005700.2:n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG
NR_123738.2:n.606-72_606-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG