Canonical Allele Identifier: CA2576383325

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919602_74919604del , CM000679.2:g.74919602_74919604del	GRCh38
NC_000017.10:g.72915697_72915699del , CM000679.1:g.72915697_72915699del	GRCh37
NC_000017.9:g.70427292_70427294del	NCBI36
NG_007882.1:g.8656_8658del
NG_033062.1:g.328_330del
NG_007882.2:g.8663_8665del
NG_033062.2:g.328_330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1235_1237del MANE Select	ENSP00000480279.1:p.Lys412del
ENST00000579243.1:c.*834_*836del	ENSP00000462568.1:n.*834_*836del
ENST00000614341.4:c.1235_1237del	ENSP00000480279.1:p.Lys412del
NM_001282489.2:c.926_928del	NP_001269418.1:p.Lys309del
NM_173477.4:c.1235_1237del	NP_775748.2:p.Lys412del
XM_011524296.1:c.926_928del	XP_011522598.1:p.Lys309del
XM_011524296.2:c.926_928del	XP_011522598.1:p.Lys309del
NM_173477.5:c.1235_1237del MANE Select	NP_775748.2:p.Lys412del
NM_001282489.3:c.926_928del	NP_001269418.1:p.Lys309del