Canonical Allele Identifier: CA2650498113

Gene: USH2A

Linked Data

• gnomAD v4: 1-215640800-TAAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640809_215640812del , CM000663.2:g.215640809_215640812del	GRCh38
NC_000001.10:g.215814151_215814154del , CM000663.1:g.215814151_215814154del	GRCh37
NC_000001.9:g.213880774_213880777del	NCBI36
NG_009497.1:g.787593_787596del
NG_009497.2:g.787645_787648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-70_14792-67del MANE Select	ENSP00000305941.3:n.14792-70_14792-67del
ENST00000674083.1:c.14792-70_14792-67del	ENSP00000501296.1:n.14792-70_14792-67del
ENST00000307340.7:c.14792-70_14792-67del	ENSP00000305941.3:n.14792-70_14792-67del
NM_206933.2:c.14792-70_14792-67del	NP_996816.2:n.14792-70_14792-67del
NM_206933.3:c.14792-70_14792-67del	NP_996816.2:n.14792-70_14792-67del
NM_206933.4:c.14792-70_14792-67del MANE Select	NP_996816.3:n.14792-70_14792-67del