Canonical Allele Identifier: CA2275255339

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919918_74919920delinsCAG , CM000679.2:g.74919918_74919920delinsCAG	GRCh38
NC_000017.10:g.72916013_72916015delinsCAG , CM000679.1:g.72916013_72916015delinsCAG	GRCh37
NC_000017.9:g.70427608_70427610delinsCAG	NCBI36
NG_007882.1:g.8337_8339delinsCTG
NG_033062.1:g.644_646delinsCAG
NG_007882.2:g.8344_8346delinsCTG
NG_033062.2:g.644_646delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.916_918delinsCTG MANE Select	ENSP00000480279.1:p.Leu306=
ENST00000579243.1:c.*515_*517delinsCTG	ENSP00000462568.1:n.*515_*517delinsCTG
ENST00000614341.4:c.916_918delinsCTG	ENSP00000480279.1:p.Leu306=
NM_001282489.2:c.607_609delinsCTG	NP_001269418.1:p.Leu203=
NM_173477.4:c.916_918delinsCTG	NP_775748.2:p.Leu306=
XM_011524296.1:c.607_609delinsCTG	XP_011522598.1:p.Leu203=
XM_011524296.2:c.607_609delinsCTG	XP_011522598.1:p.Leu203=
NM_173477.5:c.916_918delinsCTG MANE Select	NP_775748.2:p.Leu306=
NM_001282489.3:c.607_609delinsCTG	NP_001269418.1:p.Leu203=