Canonical Allele Identifier: CA2639743875
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917450_74917454del , CM000679.2:g.74917450_74917454del GRCh38
NC_000017.10:g.72913544_72913548del , CM000679.1:g.72913544_72913548del GRCh37
NC_000017.9:g.70425139_70425143del NCBI36
NG_007882.1:g.10814_10818del
NG_007882.2:g.10820_10824del

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*629_*633del MANE Select ENSP00000480279.1:n.*629_*633del
ENST00000614341.4:c.*629_*633del ENSP00000480279.1:n.*629_*633del
NM_001282489.2:c.*629_*633del NP_001269418.1:n.*629_*633del
NM_173477.4:c.*629_*633del NP_775748.2:n.*629_*633del
XM_011524296.1:c.*629_*633del XP_011522598.1:n.*629_*633del
XM_011524296.2:c.*629_*633del XP_011522598.1:n.*629_*633del
NM_173477.5:c.*629_*633del MANE Select NP_775748.2:n.*629_*633del
NM_001282489.3:c.*629_*633del NP_001269418.1:n.*629_*633del