Canonical Allele Identifier: CA674239701

Gene: USH1C

Linked Data

• dbSNP Id: rs1253067016
• gnomAD v4: 11-17509252-GTTTC-G
• MyVariant Identifiers: chr11:g.17530800_17530803del (hg19) ; chr11:g.17509253_17509256del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509258_17509261del , CM000673.2:g.17509258_17509261del	GRCh38
NC_000011.9:g.17530805_17530808del , CM000673.1:g.17530805_17530808del	GRCh37
NC_000011.8:g.17487381_17487384del	NCBI36
NG_011883.1:g.40161_40164del
NG_011883.2:g.40161_40164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2013+100_2013+103del MANE Select	ENSP00000005226.7:n.2013+100_2013+103del
ENST00000318024.9:c.1285-7276_1285-7273del MANE Plus Clinical	ENSP00000317018.4:n.1285-7276_1285-7273del
ENST00000005226.11:c.2013+100_2013+103del	ENSP00000005226.7:n.2013+100_2013+103del
ENST00000318024.8:c.1285-7276_1285-7273del	ENSP00000317018.4:n.1285-7276_1285-7273del
ENST00000526313.5:c.1211-7276_1211-7273del	ENSP00000432236.1:n.1211-7276_1211-7273del
ENST00000527020.5:c.1228-7276_1228-7273del	ENSP00000436934.1:n.1228-7276_1228-7273del
ENST00000527720.5:c.1192-7276_1192-7273del	ENSP00000432944.1:n.1192-7276_1192-7273del
ENST00000529563.5:n.168+7199_168+7202del
NM_001297764.1:c.1228-7276_1228-7273del	NP_001284693.1:n.1228-7276_1228-7273del
NM_005709.3:c.1285-7276_1285-7273del	NP_005700.2:n.1285-7276_1285-7273del
NM_153676.3:c.2013+100_2013+103del	NP_710142.1:n.2013+100_2013+103del
NR_123738.1:n.1320-7276_1320-7273del
XM_011519831.1:c.2037+100_2037+103del	XP_011518133.1:n.2037+100_2037+103del
XM_011519832.1:c.1437+2646_1437+2649del	XP_011518134.1:n.1437+2646_1437+2649del
XM_011519833.1:c.1334+6985_1334+6988del	XP_011518135.1:n.1334+6985_1334+6988del
XR_930841.1:n.1655+2646_1655+2649del
XR_930842.1:n.1596+2646_1596+2649del
XM_011519832.3:c.1437+2646_1437+2649del	XP_011518134.1:n.1437+2646_1437+2649del
XM_017017072.1:c.2038-27_2038-24del	XP_016872561.1:n.2038-27_2038-24del
XM_017017073.1:c.1981-27_1981-24del	XP_016872562.1:n.1981-27_1981-24del
XM_017017074.1:c.1555-27_1555-24del	XP_016872563.1:n.1555-27_1555-24del
XM_017017075.1:c.2013+100_2013+103del	XP_016872564.1:n.2013+100_2013+103del
XR_001747717.2:n.1443+6985_1443+6988del
NM_153676.4:c.2013+100_2013+103del MANE Select	NP_710142.1:n.2013+100_2013+103del
NM_001297764.2:c.1228-7276_1228-7273del	NP_001284693.1:n.1228-7276_1228-7273del
NM_005709.4:c.1285-7276_1285-7273del MANE Plus Clinical	NP_005700.2:n.1285-7276_1285-7273del
NR_123738.2:n.1320-7276_1320-7273del