Canonical Allele Identifier: CA913184952

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920056_74920057insTGCG , CM000679.2:g.74920056_74920057insTGCG	GRCh38
NC_000017.10:g.72916151_72916152insTGCG , CM000679.1:g.72916151_72916152insTGCG	GRCh37
NC_000017.9:g.70427746_70427747insTGCG	NCBI36
NG_007882.1:g.8201_8202insGCAC
NG_033062.1:g.782_783insTGCG
NG_007882.2:g.8208_8209insGCAC
NG_033062.2:g.782_783insTGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.780_781insGCAC MANE Select	ENSP00000480279.1:p.Tyr261AlafsTer?
ENST00000579243.1:c.*379_*380insGCAC	ENSP00000462568.1:n.*379_*380insGCAC
ENST00000614341.4:c.780_781insGCAC	ENSP00000480279.1:p.Tyr261AlafsTer?
NM_001282489.2:c.471_472insGCAC	NP_001269418.1:p.Tyr158AlafsTer?
NM_173477.4:c.780_781insGCAC	NP_775748.2:p.Tyr261AlafsTer?
XM_011524296.1:c.471_472insGCAC	XP_011522598.1:p.Tyr158AlafsTer?
XM_011524296.2:c.471_472insGCAC	XP_011522598.1:p.Tyr158AlafsTer?
NM_173477.5:c.780_781insGCAC MANE Select	NP_775748.2:p.Tyr261AlafsTer?
NM_001282489.3:c.471_472insGCAC	NP_001269418.1:p.Tyr158AlafsTer?