Canonical Allele Identifier: CA2790591896

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17494583_17494584insA , CM000673.2:g.17494583_17494584insA	GRCh38
NC_000011.9:g.17516130_17516131insA , CM000673.1:g.17516130_17516131insA	GRCh37
NC_000011.8:g.17472706_17472707insA	NCBI36
NG_011883.1:g.54833_54834insT
NG_011883.2:g.54833_54834insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2656-208_2656-207insT MANE Select	ENSP00000005226.7:n.2656-208_2656-207insT
ENST00000318024.9:c.1647-208_1647-207insT MANE Plus Clinical	ENSP00000317018.4:n.1647-208_1647-207insT
ENST00000005226.11:c.2656-208_2656-207insT	ENSP00000005226.7:n.2656-208_2656-207insT
ENST00000318024.8:c.1647-208_1647-207insT	ENSP00000317018.4:n.1647-208_1647-207insT
ENST00000526313.5:c.*361-208_*361-207insT	ENSP00000432236.1:n.*361-208_*361-207insT
ENST00000527020.5:c.1590-208_1590-207insT	ENSP00000436934.1:n.1590-208_1590-207insT
ENST00000527551.1:n.157-208_157-207insT
ENST00000527720.5:c.1554-208_1554-207insT	ENSP00000432944.1:n.1554-208_1554-207insT
ENST00000529563.5:n.531-208_531-207insT
ENST00000624811.1:n.510_511insT
NM_001297764.1:c.1590-208_1590-207insT	NP_001284693.1:n.1590-208_1590-207insT
NM_005709.3:c.1647-208_1647-207insT	NP_005700.2:n.1647-208_1647-207insT
NM_153676.3:c.2656-208_2656-207insT	NP_710142.1:n.2656-208_2656-207insT
NR_123738.1:n.1682-208_1682-207insT
XM_011519831.1:c.2571-208_2571-207insT	XP_011518133.1:n.2571-208_2571-207insT
XM_011519832.1:c.1800-208_1800-207insT	XP_011518134.1:n.1800-208_1800-207insT
XM_011519832.3:c.1800-208_1800-207insT	XP_011518134.1:n.1800-208_1800-207insT
XM_017017075.1:c.*769_*770insT	XP_016872564.1:n.*769_*770insT
XR_001747717.2:n.1806-208_1806-207insT
NM_153676.4:c.2656-208_2656-207insT MANE Select	NP_710142.1:n.2656-208_2656-207insT
NM_001297764.2:c.1590-208_1590-207insT	NP_001284693.1:n.1590-208_1590-207insT
NM_005709.4:c.1647-208_1647-207insT MANE Plus Clinical	NP_005700.2:n.1647-208_1647-207insT
NR_123738.2:n.1682-208_1682-207insT