Canonical Allele Identifier: CA2612676871

Gene: USH1C

Linked Data

• gnomAD v4: 11-17527117-C-CTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17527161_17527162insTTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTG , CM000673.2:g.17527161_17527162insTTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTG	GRCh38
NC_000011.9:g.17548708_17548709insTTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTG , CM000673.1:g.17548708_17548709insTTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTG	GRCh37
NC_000011.8:g.17505284_17505285insTTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTG	NCBI36
NG_011883.1:g.22299_22300insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA
NG_011883.2:g.22299_22300insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA MANE Select	ENSP00000005226.7:n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGG...
ENST00000318024.9:c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA MANE Plus Clinical	ENSP00000317018.4:n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGG...
ENST00000005226.11:c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA	ENSP00000005226.7:n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGG...
ENST00000318024.8:c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA	ENSP00000317018.4:n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGG...
ENST00000526181.1:c.530-78_530-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA	ENSP00000437128.1:n.530-78_530-77insACAGGGCAGTACTCCATGACGGTGG...
ENST00000526313.5:c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA	ENSP00000432236.1:n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGG...
ENST00000527020.5:c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA	ENSP00000436934.1:n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGG...
ENST00000527720.5:c.404-78_404-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA	ENSP00000432944.1:n.404-78_404-77insACAGGGCAGTACTCCATGACGGTGG...
NM_001297764.1:c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA	NP_001284693.1:n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAG...
NM_005709.3:c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA	NP_005700.2:n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGA...
NM_153676.3:c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA	NP_710142.1:n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGA...
NR_123738.1:n.606-78_606-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA
XM_011519831.1:c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA	XP_011518133.1:n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAG...
XM_011519832.1:c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA	XP_011518134.1:n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAG...
XM_011519833.1:c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA	XP_011518135.1:n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAG...
XM_011519834.1:c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA	XP_011518136.1:n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAG...
XR_930841.1:n.606-78_606-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA
XR_930842.1:n.606-78_606-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA
XM_011519832.3:c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA	XP_011518134.1:n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAG...
XM_011519834.2:c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA	XP_011518136.1:n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAG...
XM_017017072.1:c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA	XP_016872561.1:n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAG...
XM_017017073.1:c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA	XP_016872562.1:n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAG...
XM_017017074.1:c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA	XP_016872563.1:n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAG...
XM_017017075.1:c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA	XP_016872564.1:n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAG...
XR_001747717.2:n.606-78_606-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA
NM_153676.4:c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA MANE Select	NP_710142.1:n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGA...
NM_001297764.2:c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA	NP_001284693.1:n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAG...
NM_005709.4:c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA MANE Plus Clinical	NP_005700.2:n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGA...
NR_123738.2:n.606-78_606-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA