Canonical Allele Identifier: CA2275255327

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919900_74919901delinsCA , CM000679.2:g.74919900_74919901delinsCA	GRCh38
NC_000017.10:g.72915995_72915996delinsCA , CM000679.1:g.72915995_72915996delinsCA	GRCh37
NC_000017.9:g.70427590_70427591delinsCA	NCBI36
NG_007882.1:g.8356_8357delinsTG
NG_033062.1:g.626_627delinsCA
NG_007882.2:g.8363_8364delinsTG
NG_033062.2:g.626_627delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.935_936delinsTG MANE Select	ENSP00000480279.1:p.Leu312=
ENST00000579243.1:c.*534_*535delinsTG	ENSP00000462568.1:n.*534_*535delinsTG
ENST00000614341.4:c.935_936delinsTG	ENSP00000480279.1:p.Leu312=
NM_001282489.2:c.626_627delinsTG	NP_001269418.1:p.Leu209=
NM_173477.4:c.935_936delinsTG	NP_775748.2:p.Leu312=
XM_011524296.1:c.626_627delinsTG	XP_011522598.1:p.Leu209=
XM_011524296.2:c.626_627delinsTG	XP_011522598.1:p.Leu209=
NM_173477.5:c.935_936delinsTG MANE Select	NP_775748.2:p.Leu312=
NM_001282489.3:c.626_627delinsTG	NP_001269418.1:p.Leu209=