Canonical Allele Identifier: CA935547377

Gene: USH1C

Linked Data

• dbSNP Id: rs1850726346
• gnomAD v3: 11-17527118-TCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTG-T
• gnomAD v4: 11-17527118-TCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17527120_17527162del , CM000673.2:g.17527120_17527162del	GRCh38
NC_000011.9:g.17548667_17548709del , CM000673.1:g.17548667_17548709del	GRCh37
NC_000011.8:g.17505243_17505285del	NCBI36
NG_011883.1:g.22256_22298del
NG_011883.2:g.22256_22298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.496+62_497-79del MANE Select	ENSP00000005226.7:n.496+62_497-79del
ENST00000318024.9:c.496+62_497-79del MANE Plus Clinical	ENSP00000317018.4:n.496+62_497-79del
ENST00000005226.11:c.496+62_497-79del	ENSP00000005226.7:n.496+62_497-79del
ENST00000318024.8:c.496+62_497-79del	ENSP00000317018.4:n.496+62_497-79del
ENST00000526181.1:c.529+62_530-79del	ENSP00000437128.1:n.529+62_530-79del
ENST00000526313.5:c.496+62_497-79del	ENSP00000432236.1:n.496+62_497-79del
ENST00000527020.5:c.496+62_497-79del	ENSP00000436934.1:n.496+62_497-79del
ENST00000527720.5:c.403+62_404-79del	ENSP00000432944.1:n.403+62_404-79del
NM_001297764.1:c.496+62_497-79del	NP_001284693.1:n.496+62_497-79del
NM_005709.3:c.496+62_497-79del	NP_005700.2:n.496+62_497-79del
NM_153676.3:c.496+62_497-79del	NP_710142.1:n.496+62_497-79del
NR_123738.1:n.605+62_606-79del
XM_011519831.1:c.496+62_497-79del	XP_011518133.1:n.496+62_497-79del
XM_011519832.1:c.496+62_497-79del	XP_011518134.1:n.496+62_497-79del
XM_011519833.1:c.496+62_497-79del	XP_011518135.1:n.496+62_497-79del
XM_011519834.1:c.496+62_497-79del	XP_011518136.1:n.496+62_497-79del
XR_930841.1:n.605+62_606-79del
XR_930842.1:n.605+62_606-79del
XM_011519832.3:c.496+62_497-79del	XP_011518134.1:n.496+62_497-79del
XM_011519834.2:c.496+62_497-79del	XP_011518136.1:n.496+62_497-79del
XM_017017072.1:c.496+62_497-79del	XP_016872561.1:n.496+62_497-79del
XM_017017073.1:c.496+62_497-79del	XP_016872562.1:n.496+62_497-79del
XM_017017074.1:c.496+62_497-79del	XP_016872563.1:n.496+62_497-79del
XM_017017075.1:c.496+62_497-79del	XP_016872564.1:n.496+62_497-79del
XR_001747717.2:n.605+62_606-79del
NM_153676.4:c.496+62_497-79del MANE Select	NP_710142.1:n.496+62_497-79del
NM_001297764.2:c.496+62_497-79del	NP_001284693.1:n.496+62_497-79del
NM_005709.4:c.496+62_497-79del MANE Plus Clinical	NP_005700.2:n.496+62_497-79del
NR_123738.2:n.605+62_606-79del