Canonical Allele Identifier: CA986277655

Gene: USH1G

Linked Data

• dbSNP Id: rs2038915304
• gnomAD v3: 17-74919900-CA-C
• gnomAD v4: 17-74919900-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919901del , CM000679.2:g.74919901del	GRCh38
NC_000017.10:g.72915996del , CM000679.1:g.72915996del	GRCh37
NC_000017.9:g.70427591del	NCBI36
NG_007882.1:g.8356del
NG_033062.1:g.627del
NG_007882.2:g.8363del
NG_033062.2:g.627del

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.935del MANE Select	ENSP00000480279.1:p.Leu312ArgfsTer11
ENST00000579243.1:c.*534del	ENSP00000462568.1:n.*534del
ENST00000614341.4:c.935del	ENSP00000480279.1:p.Leu312ArgfsTer11
NM_001282489.2:c.626del	NP_001269418.1:p.Leu209ArgfsTer11
NM_173477.4:c.935del	NP_775748.2:p.Leu312ArgfsTer11
XM_011524296.1:c.626del	XP_011522598.1:p.Leu209ArgfsTer11
XM_011524296.2:c.626del	XP_011522598.1:p.Leu209ArgfsTer11
NM_173477.5:c.935del MANE Select	NP_775748.2:p.Leu312ArgfsTer11
NM_001282489.3:c.626del	NP_001269418.1:p.Leu209ArgfsTer11