Canonical Allele Identifier: CA913184936

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920139_74920140insG , CM000679.2:g.74920139_74920140insG	GRCh38
NC_000017.10:g.72916234_72916235insG , CM000679.1:g.72916234_72916235insG	GRCh37
NC_000017.9:g.70427829_70427830insG	NCBI36
NG_007882.1:g.8117_8118insC
NG_033062.1:g.865_866insG
NG_007882.2:g.8124_8125insC
NG_033062.2:g.865_866insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.696_697insC MANE Select	ENSP00000480279.1:p.Val233ArgfsTer?
ENST00000579243.1:c.*295_*296insC	ENSP00000462568.1:n.*295_*296insC
ENST00000614341.4:c.696_697insC	ENSP00000480279.1:p.Val233ArgfsTer?
NM_001282489.2:c.387_388insC	NP_001269418.1:p.Val130ArgfsTer?
NM_173477.4:c.696_697insC	NP_775748.2:p.Val233ArgfsTer?
XM_011524296.1:c.387_388insC	XP_011522598.1:p.Val130ArgfsTer?
XM_011524296.2:c.387_388insC	XP_011522598.1:p.Val130ArgfsTer?
NM_173477.5:c.696_697insC MANE Select	NP_775748.2:p.Val233ArgfsTer?
NM_001282489.3:c.387_388insC	NP_001269418.1:p.Val130ArgfsTer?