Canonical Allele Identifier: CA731350976

Gene: USH2A

Linked Data

• dbSNP Id: rs1222630748
• gnomAD v3: 1-215743276-T-TACACA
• gnomAD v4: 1-215743276-T-TACACA
• MyVariant Identifiers: chr1:g.215916618_215916619insACACA (hg19) ; chr1:g.215743276_215743277insACACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215743276_215743277insACACA , CM000663.2:g.215743276_215743277insACACA	GRCh38
NC_000001.10:g.215916618_215916619insACACA , CM000663.1:g.215916618_215916619insACACA	GRCh37
NC_000001.9:g.213983241_213983242insACACA	NCBI36
NG_009497.1:g.685120_685121insTGTGT
NG_009497.2:g.685172_685173insTGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11448_11449insTGTGT MANE Select	ENSP00000305941.3:p.Thr3817CysfsTer20
ENST00000674083.1:c.11448_11449insTGTGT	ENSP00000501296.1:p.Thr3817CysfsTer20
ENST00000307340.7:c.11448_11449insTGTGT	ENSP00000305941.3:p.Thr3817CysfsTer20
NM_206933.2:c.11448_11449insTGTGT	NP_996816.2:p.Thr3817CysfsTer20
NM_206933.3:c.11448_11449insTGTGT	NP_996816.2:p.Thr3817CysfsTer20
NM_206933.4:c.11448_11449insTGTGT MANE Select	NP_996816.3:p.Thr3817CysfsTer20