Canonical Allele Identifier: CA1955177068

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509330_17509332delinsCAT , CM000673.2:g.17509330_17509332delinsCAT	GRCh38
NC_000011.9:g.17530877_17530879delinsCAT , CM000673.1:g.17530877_17530879delinsCAT	GRCh37
NC_000011.8:g.17487453_17487455delinsCAT	NCBI36
NG_011883.1:g.40085_40087delinsATG
NG_011883.2:g.40085_40087delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2013+24_2013+26delinsATG MANE Select	ENSP00000005226.7:n.2013+24_2013+26delinsATG
ENST00000318024.9:c.1285-7352_1285-7350delinsATG MANE Plus Clinical	ENSP00000317018.4:n.1285-7352_1285-7350delinsATG
ENST00000005226.11:c.2013+24_2013+26delinsATG	ENSP00000005226.7:n.2013+24_2013+26delinsATG
ENST00000318024.8:c.1285-7352_1285-7350delinsATG	ENSP00000317018.4:n.1285-7352_1285-7350delinsATG
ENST00000526313.5:c.1211-7352_1211-7350delinsATG	ENSP00000432236.1:n.1211-7352_1211-7350delinsATG
ENST00000527020.5:c.1228-7352_1228-7350delinsATG	ENSP00000436934.1:n.1228-7352_1228-7350delinsATG
ENST00000527720.5:c.1192-7352_1192-7350delinsATG	ENSP00000432944.1:n.1192-7352_1192-7350delinsATG
ENST00000529563.5:n.168+7123_168+7125delinsATG
NM_001297764.1:c.1228-7352_1228-7350delinsATG	NP_001284693.1:n.1228-7352_1228-7350delinsATG
NM_005709.3:c.1285-7352_1285-7350delinsATG	NP_005700.2:n.1285-7352_1285-7350delinsATG
NM_153676.3:c.2013+24_2013+26delinsATG	NP_710142.1:n.2013+24_2013+26delinsATG
NR_123738.1:n.1320-7352_1320-7350delinsATG
XM_011519831.1:c.2037+24_2037+26delinsATG	XP_011518133.1:n.2037+24_2037+26delinsATG
XM_011519832.1:c.1437+2570_1437+2572delinsATG	XP_011518134.1:n.1437+2570_1437+2572delinsATG
XM_011519833.1:c.1334+6909_1334+6911delinsATG	XP_011518135.1:n.1334+6909_1334+6911delinsATG
XR_930841.1:n.1655+2570_1655+2572delinsATG
XR_930842.1:n.1596+2570_1596+2572delinsATG
XM_011519832.3:c.1437+2570_1437+2572delinsATG	XP_011518134.1:n.1437+2570_1437+2572delinsATG
XM_017017072.1:c.2037+24_2037+26delinsATG	XP_016872561.1:n.2037+24_2037+26delinsATG
XM_017017073.1:c.1980+24_1980+26delinsATG	XP_016872562.1:n.1980+24_1980+26delinsATG
XM_017017074.1:c.1555-103_1555-101delinsATG	XP_016872563.1:n.1555-103_1555-101delinsATG
XM_017017075.1:c.2013+24_2013+26delinsATG	XP_016872564.1:n.2013+24_2013+26delinsATG
XR_001747717.2:n.1443+6909_1443+6911delinsATG
NM_153676.4:c.2013+24_2013+26delinsATG MANE Select	NP_710142.1:n.2013+24_2013+26delinsATG
NM_001297764.2:c.1228-7352_1228-7350delinsATG	NP_001284693.1:n.1228-7352_1228-7350delinsATG
NM_005709.4:c.1285-7352_1285-7350delinsATG MANE Plus Clinical	NP_005700.2:n.1285-7352_1285-7350delinsATG
NR_123738.2:n.1320-7352_1320-7350delinsATG