Canonical Allele Identifier: CA8754026

Gene: USH1G

Linked Data

• dbSNP Id: rs762274233
• ExAC: 17:72916273 GCTT / G
• gnomAD v2: 17-72916273-GCTT-G
• gnomAD v3: 17-74920178-GCTT-G
• gnomAD v4: 17-74920178-GCTT-G
• MyVariant Identifiers: chr17:g.72916274_72916276del (hg19) ; chr17:g.74920179_74920181del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920184_74920186del , CM000679.2:g.74920184_74920186del	GRCh38
NC_000017.10:g.72916279_72916281del , CM000679.1:g.72916279_72916281del	GRCh37
NC_000017.9:g.70427874_70427876del	NCBI36
NG_007882.1:g.8076_8078del
NG_033062.1:g.910_912del
NG_007882.2:g.8083_8085del
NG_033062.2:g.910_912del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.655_657del MANE Select	ENSP00000480279.1:p.Lys219del
ENST00000579243.1:c.*254_*256del	ENSP00000462568.1:n.*254_*256del
ENST00000614341.4:c.655_657del	ENSP00000480279.1:p.Lys219del
NM_001282489.2:c.346_348del	NP_001269418.1:p.Lys116del
NM_173477.4:c.655_657del	NP_775748.2:p.Lys219del
XM_011524296.1:c.346_348del	XP_011522598.1:p.Lys116del
XM_011524296.2:c.346_348del	XP_011522598.1:p.Lys116del
NM_173477.5:c.655_657del MANE Select	NP_775748.2:p.Lys219del
NM_001282489.3:c.346_348del	NP_001269418.1:p.Lys116del