Canonical Allele Identifier: CA2275254176
Gene: USH1G HGNC NCBI

Linked Data

dbSNP Id: rs2038882439

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917490_74917499del , CM000679.2:g.74917490_74917499del GRCh38
NC_000017.10:g.72913584_72913593del , CM000679.1:g.72913584_72913593del GRCh37
NC_000017.9:g.70425179_70425188del NCBI36
NG_007882.1:g.10761_10770del
NG_007882.2:g.10767_10776del

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*576_*585del MANE Select ENSP00000480279.1:n.*576_*585del
ENST00000614341.4:c.*576_*585del ENSP00000480279.1:n.*576_*585del
NM_001282489.2:c.*576_*585del NP_001269418.1:n.*576_*585del
NM_173477.4:c.*576_*585del NP_775748.2:n.*576_*585del
XM_011524296.1:c.*576_*585del XP_011522598.1:n.*576_*585del
XM_011524296.2:c.*576_*585del XP_011522598.1:n.*576_*585del
NM_173477.5:c.*576_*585del MANE Select NP_775748.2:n.*576_*585del
NM_001282489.3:c.*576_*585del NP_001269418.1:n.*576_*585del