Canonical Allele Identifier: CA1012185451

Gene: USH2A

Linked Data

• dbSNP Id: rs1656668425
• gnomAD v3: 1-215641001-TAG-T
• gnomAD v4: 1-215641001-TAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215641006_215641007del , CM000663.2:g.215641006_215641007del	GRCh38
NC_000001.10:g.215814348_215814349del , CM000663.1:g.215814348_215814349del	GRCh37
NC_000001.9:g.213880971_213880972del	NCBI36
NG_009497.1:g.787394_787395del
NG_009497.2:g.787446_787447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-269_14792-268del MANE Select	ENSP00000305941.3:n.14792-269_14792-268del
ENST00000674083.1:c.14792-269_14792-268del	ENSP00000501296.1:n.14792-269_14792-268del
ENST00000307340.7:c.14792-269_14792-268del	ENSP00000305941.3:n.14792-269_14792-268del
NM_206933.2:c.14792-269_14792-268del	NP_996816.2:n.14792-269_14792-268del
NM_206933.3:c.14792-269_14792-268del	NP_996816.2:n.14792-269_14792-268del
NM_206933.4:c.14792-269_14792-268del MANE Select	NP_996816.3:n.14792-269_14792-268del