Canonical Allele Identifier: CA597668782

Gene: USH1C

Linked Data

• dbSNP Id: rs1487000224
• gnomAD v2: 11-17548617-A-AGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCT
• gnomAD v3: 11-17527070-A-AGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCT
• gnomAD v4: 11-17527070-A-AGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCT
• MyVariant Identifiers: chr11:g.17548662_17548663insGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCT (hg19) ; chr11:g.17527115_17527116insGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17527112_17527156dup , CM000673.2:g.17527112_17527156dup	GRCh38
NC_000011.9:g.17548659_17548703dup , CM000673.1:g.17548659_17548703dup	GRCh37
NC_000011.8:g.17505235_17505279dup	NCBI36
NG_011883.1:g.22302_22346dup
NG_011883.2:g.22302_22346dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.497-75_497-31dup MANE Select	ENSP00000005226.7:n.497-75_497-31dup
ENST00000318024.9:c.497-75_497-31dup MANE Plus Clinical	ENSP00000317018.4:n.497-75_497-31dup
ENST00000005226.11:c.497-75_497-31dup	ENSP00000005226.7:n.497-75_497-31dup
ENST00000318024.8:c.497-75_497-31dup	ENSP00000317018.4:n.497-75_497-31dup
ENST00000526181.1:c.530-75_530-31dup	ENSP00000437128.1:n.530-75_530-31dup
ENST00000526313.5:c.497-75_497-31dup	ENSP00000432236.1:n.497-75_497-31dup
ENST00000527020.5:c.497-75_497-31dup	ENSP00000436934.1:n.497-75_497-31dup
ENST00000527720.5:c.404-75_404-31dup	ENSP00000432944.1:n.404-75_404-31dup
NM_001297764.1:c.497-75_497-31dup	NP_001284693.1:n.497-75_497-31dup
NM_005709.3:c.497-75_497-31dup	NP_005700.2:n.497-75_497-31dup
NM_153676.3:c.497-75_497-31dup	NP_710142.1:n.497-75_497-31dup
NR_123738.1:n.606-75_606-31dup
XM_011519831.1:c.497-75_497-31dup	XP_011518133.1:n.497-75_497-31dup
XM_011519832.1:c.497-75_497-31dup	XP_011518134.1:n.497-75_497-31dup
XM_011519833.1:c.497-75_497-31dup	XP_011518135.1:n.497-75_497-31dup
XM_011519834.1:c.497-75_497-31dup	XP_011518136.1:n.497-75_497-31dup
XR_930841.1:n.606-75_606-31dup
XR_930842.1:n.606-75_606-31dup
XM_011519832.3:c.497-75_497-31dup	XP_011518134.1:n.497-75_497-31dup
XM_011519834.2:c.497-75_497-31dup	XP_011518136.1:n.497-75_497-31dup
XM_017017072.1:c.497-75_497-31dup	XP_016872561.1:n.497-75_497-31dup
XM_017017073.1:c.497-75_497-31dup	XP_016872562.1:n.497-75_497-31dup
XM_017017074.1:c.497-75_497-31dup	XP_016872563.1:n.497-75_497-31dup
XM_017017075.1:c.497-75_497-31dup	XP_016872564.1:n.497-75_497-31dup
XR_001747717.2:n.606-75_606-31dup
NM_153676.4:c.497-75_497-31dup MANE Select	NP_710142.1:n.497-75_497-31dup
NM_001297764.2:c.497-75_497-31dup	NP_001284693.1:n.497-75_497-31dup
NM_005709.4:c.497-75_497-31dup MANE Plus Clinical	NP_005700.2:n.497-75_497-31dup
NR_123738.2:n.606-75_606-31dup