Canonical Allele Identifier: CA2275254197

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74917524_74917525delinsGT , CM000679.2:g.74917524_74917525delinsGT	GRCh38
NC_000017.10:g.72913618_72913619delinsGT , CM000679.1:g.72913618_72913619delinsGT	GRCh37
NC_000017.9:g.70425213_70425214delinsGT	NCBI36
NG_007882.1:g.10733_10734delinsAC
NG_007882.2:g.10739_10740delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.*548_*549delinsAC MANE Select	ENSP00000480279.1:n.*548_*549delinsAC
ENST00000614341.4:c.*548_*549delinsAC	ENSP00000480279.1:n.*548_*549delinsAC
NM_001282489.2:c.*548_*549delinsAC	NP_001269418.1:n.*548_*549delinsAC
NM_173477.4:c.*548_*549delinsAC	NP_775748.2:n.*548_*549delinsAC
XM_011524296.1:c.*548_*549delinsAC	XP_011522598.1:n.*548_*549delinsAC
XM_011524296.2:c.*548_*549delinsAC	XP_011522598.1:n.*548_*549delinsAC
NM_173477.5:c.*548_*549delinsAC MANE Select	NP_775748.2:n.*548_*549delinsAC
NM_001282489.3:c.*548_*549delinsAC	NP_001269418.1:n.*548_*549delinsAC