Canonical Allele Identifier: CA2650498121

Gene: USH2A

Linked Data

• gnomAD v4: 1-215640811-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640811_215640812insT , CM000663.2:g.215640811_215640812insT	GRCh38
NC_000001.10:g.215814153_215814154insT , CM000663.1:g.215814153_215814154insT	GRCh37
NC_000001.9:g.213880776_213880777insT	NCBI36
NG_009497.1:g.787585_787586insA
NG_009497.2:g.787637_787638insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-78_14792-77insA MANE Select	ENSP00000305941.3:n.14792-78_14792-77insA
ENST00000674083.1:c.14792-78_14792-77insA	ENSP00000501296.1:n.14792-78_14792-77insA
ENST00000307340.7:c.14792-78_14792-77insA	ENSP00000305941.3:n.14792-78_14792-77insA
NM_206933.2:c.14792-78_14792-77insA	NP_996816.2:n.14792-78_14792-77insA
NM_206933.3:c.14792-78_14792-77insA	NP_996816.2:n.14792-78_14792-77insA
NM_206933.4:c.14792-78_14792-77insA MANE Select	NP_996816.3:n.14792-78_14792-77insA