Canonical Allele Identifier: CA2650498155

Gene: USH2A

Linked Data

• gnomAD v4: 1-215640833-ACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640834_215640835del , CM000663.2:g.215640834_215640835del	GRCh38
NC_000001.10:g.215814176_215814177del , CM000663.1:g.215814176_215814177del	GRCh37
NC_000001.9:g.213880799_213880800del	NCBI36
NG_009497.1:g.787562_787563del
NG_009497.2:g.787614_787615del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-101_14792-100del MANE Select	ENSP00000305941.3:n.14792-101_14792-100del
ENST00000674083.1:c.14792-101_14792-100del	ENSP00000501296.1:n.14792-101_14792-100del
ENST00000307340.7:c.14792-101_14792-100del	ENSP00000305941.3:n.14792-101_14792-100del
NM_206933.2:c.14792-101_14792-100del	NP_996816.2:n.14792-101_14792-100del
NM_206933.3:c.14792-101_14792-100del	NP_996816.2:n.14792-101_14792-100del
NM_206933.4:c.14792-101_14792-100del MANE Select	NP_996816.3:n.14792-101_14792-100del