Canonical Allele Identifier: CA986277652

Gene: USH1G

Linked Data

• dbSNP Id: rs2038915217
• gnomAD v3: 17-74919896-TGCC-T
• gnomAD v4: 17-74919896-TGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919897_74919899del , CM000679.2:g.74919897_74919899del	GRCh38
NC_000017.10:g.72915992_72915994del , CM000679.1:g.72915992_72915994del	GRCh37
NC_000017.9:g.70427587_70427589del	NCBI36
NG_007882.1:g.8358_8360del
NG_033062.1:g.623_625del
NG_007882.2:g.8365_8367del
NG_033062.2:g.623_625del

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.937_939del MANE Select	ENSP00000480279.1:p.Gly313del
ENST00000579243.1:c.*536_*538del	ENSP00000462568.1:n.*536_*538del
ENST00000614341.4:c.937_939del	ENSP00000480279.1:p.Gly313del
NM_001282489.2:c.628_630del	NP_001269418.1:p.Gly210del
NM_173477.4:c.937_939del	NP_775748.2:p.Gly313del
XM_011524296.1:c.628_630del	XP_011522598.1:p.Gly210del
XM_011524296.2:c.628_630del	XP_011522598.1:p.Gly210del
NM_173477.5:c.937_939del MANE Select	NP_775748.2:p.Gly313del
NM_001282489.3:c.628_630del	NP_001269418.1:p.Gly210del