Canonical Allele Identifier: CA2790592582

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501245_17501249del , CM000673.2:g.17501245_17501249del	GRCh38
NC_000011.9:g.17522792_17522796del , CM000673.1:g.17522792_17522796del	GRCh37
NC_000011.8:g.17479368_17479372del	NCBI36
NG_011883.1:g.48170_48174del
NG_011883.2:g.48170_48174del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2281-97_2281-93del MANE Select	ENSP00000005226.7:n.2281-97_2281-93del
ENST00000318024.9:c.1381-97_1381-93del MANE Plus Clinical	ENSP00000317018.4:n.1381-97_1381-93del
ENST00000005226.11:c.2281-97_2281-93del	ENSP00000005226.7:n.2281-97_2281-93del
ENST00000318024.8:c.1381-97_1381-93del	ENSP00000317018.4:n.1381-97_1381-93del
ENST00000526313.5:c.*95-97_*95-93del	ENSP00000432236.1:n.*95-97_*95-93del
ENST00000527020.5:c.1324-97_1324-93del	ENSP00000436934.1:n.1324-97_1324-93del
ENST00000527720.5:c.1288-97_1288-93del	ENSP00000432944.1:n.1288-97_1288-93del
ENST00000529563.5:n.265-97_265-93del
ENST00000534556.1:n.166-97_166-93del
NM_001297764.1:c.1324-97_1324-93del	NP_001284693.1:n.1324-97_1324-93del
NM_005709.3:c.1381-97_1381-93del	NP_005700.2:n.1381-97_1381-93del
NM_153676.3:c.2281-97_2281-93del	NP_710142.1:n.2281-97_2281-93del
NR_123738.1:n.1416-97_1416-93del
XM_011519831.1:c.2305-97_2305-93del	XP_011518133.1:n.2305-97_2305-93del
XM_011519832.1:c.1534-97_1534-93del	XP_011518134.1:n.1534-97_1534-93del
XM_011519833.1:c.1431-97_1431-93del	XP_011518135.1:n.1431-97_1431-93del
XR_930841.1:n.1752-97_1752-93del
XR_930842.1:n.1693-97_1693-93del
XM_011519832.3:c.1534-97_1534-93del	XP_011518134.1:n.1534-97_1534-93del
XM_017017075.1:c.2281-97_2281-93del	XP_016872564.1:n.2281-97_2281-93del
XR_001747717.2:n.1540-97_1540-93del
NM_153676.4:c.2281-97_2281-93del MANE Select	NP_710142.1:n.2281-97_2281-93del
NM_001297764.2:c.1324-97_1324-93del	NP_001284693.1:n.1324-97_1324-93del
NM_005709.4:c.1381-97_1381-93del MANE Plus Clinical	NP_005700.2:n.1381-97_1381-93del
NR_123738.2:n.1416-97_1416-93del