Canonical Allele Identifier: CA1139655064

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919646_74919648del , CM000679.2:g.74919646_74919648del	GRCh38
NC_000017.10:g.72915741_72915743del , CM000679.1:g.72915741_72915743del	GRCh37
NC_000017.9:g.70427336_70427338del	NCBI36
NG_007882.1:g.8609_8611del
NG_033062.1:g.372_374del
NG_007882.2:g.8616_8618del
NG_033062.2:g.372_374del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1188_1190del MANE Select	ENSP00000480279.1:p.Ala397del
ENST00000579243.1:c.*787_*789del	ENSP00000462568.1:n.*787_*789del
ENST00000614341.4:c.1188_1190del	ENSP00000480279.1:p.Ala397del
NM_001282489.2:c.879_881del	NP_001269418.1:p.Ala294del
NM_173477.4:c.1188_1190del	NP_775748.2:p.Ala397del
XM_011524296.1:c.879_881del	XP_011522598.1:p.Ala294del
XM_011524296.2:c.879_881del	XP_011522598.1:p.Ala294del
NM_173477.5:c.1188_1190del MANE Select	NP_775748.2:p.Ala397del
NM_001282489.3:c.879_881del	NP_001269418.1:p.Ala294del