Canonical Allele Identifier: CA2639747140

Gene: USH1G

Linked Data

• gnomAD v4: 17-74919649-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919651del , CM000679.2:g.74919651del	GRCh38
NC_000017.10:g.72915746del , CM000679.1:g.72915746del	GRCh37
NC_000017.9:g.70427341del	NCBI36
NG_007882.1:g.8607del
NG_033062.1:g.377del
NG_007882.2:g.8614del
NG_033062.2:g.377del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1186del MANE Select	ENSP00000480279.1:p.Leu396TrpfsTer23
ENST00000579243.1:c.*785del	ENSP00000462568.1:n.*785del
ENST00000614341.4:c.1186del	ENSP00000480279.1:p.Leu396TrpfsTer23
NM_001282489.2:c.877del	NP_001269418.1:p.Leu293TrpfsTer23
NM_173477.4:c.1186del	NP_775748.2:p.Leu396TrpfsTer23
XM_011524296.1:c.877del	XP_011522598.1:p.Leu293TrpfsTer23
XM_011524296.2:c.877del	XP_011522598.1:p.Leu293TrpfsTer23
NM_173477.5:c.1186del MANE Select	NP_775748.2:p.Leu396TrpfsTer23
NM_001282489.3:c.877del	NP_001269418.1:p.Leu293TrpfsTer23