Canonical Allele Identifier: CA2810423473
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917343_74917344del , CM000679.2:g.74917343_74917344del GRCh38
NC_000017.10:g.72913437_72913438del , CM000679.1:g.72913437_72913438del GRCh37
NC_000017.9:g.70425032_70425033del NCBI36
NG_007882.1:g.10916_10917del
NG_007882.2:g.10922_10923del

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*731_*732del MANE Select ENSP00000480279.1:n.*731_*732del
ENST00000614341.4:c.*731_*732del ENSP00000480279.1:n.*731_*732del
NM_001282489.2:c.*731_*732del NP_001269418.1:n.*731_*732del
NM_173477.4:c.*731_*732del NP_775748.2:n.*731_*732del
XM_011524296.1:c.*731_*732del XP_011522598.1:n.*731_*732del
XM_011524296.2:c.*731_*732del XP_011522598.1:n.*731_*732del
NM_173477.5:c.*731_*732del MANE Select NP_775748.2:n.*731_*732del
NM_001282489.3:c.*731_*732del NP_001269418.1:n.*731_*732del