Canonical Allele Identifier: CA2275255465

Gene: USH1G

Linked Data

• dbSNP Id: rs2038920983

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920151_74920164del , CM000679.2:g.74920151_74920164del	GRCh38
NC_000017.10:g.72916246_72916259del , CM000679.1:g.72916246_72916259del	GRCh37
NC_000017.9:g.70427841_70427854del	NCBI36
NG_007882.1:g.8096_8109del
NG_033062.1:g.877_890del
NG_007882.2:g.8103_8116del
NG_033062.2:g.877_890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.675_688del MANE Select	ENSP00000480279.1:p.Gln225HisfsTer?
ENST00000579243.1:c.*274_*287del	ENSP00000462568.1:n.*274_*287del
ENST00000614341.4:c.675_688del	ENSP00000480279.1:p.Gln225HisfsTer?
NM_001282489.2:c.366_379del	NP_001269418.1:p.Gln122HisfsTer?
NM_173477.4:c.675_688del	NP_775748.2:p.Gln225HisfsTer?
XM_011524296.1:c.366_379del	XP_011522598.1:p.Gln122HisfsTer?
XM_011524296.2:c.366_379del	XP_011522598.1:p.Gln122HisfsTer?
NM_173477.5:c.675_688del MANE Select	NP_775748.2:p.Gln225HisfsTer?
NM_001282489.3:c.366_379del	NP_001269418.1:p.Gln122HisfsTer?