Canonical Allele Identifier: CA2747716439

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640790_215640791insACA , CM000663.2:g.215640790_215640791insACA	GRCh38
NC_000001.10:g.215814132_215814133insACA , CM000663.1:g.215814132_215814133insACA	GRCh37
NC_000001.9:g.213880755_213880756insACA	NCBI36
NG_009497.1:g.787606_787607insTGT
NG_009497.2:g.787658_787659insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-57_14792-56insTGT MANE Select	ENSP00000305941.3:n.14792-57_14792-56insTGT
ENST00000674083.1:c.14792-57_14792-56insTGT	ENSP00000501296.1:n.14792-57_14792-56insTGT
ENST00000307340.7:c.14792-57_14792-56insTGT	ENSP00000305941.3:n.14792-57_14792-56insTGT
NM_206933.2:c.14792-57_14792-56insTGT	NP_996816.2:n.14792-57_14792-56insTGT
NM_206933.3:c.14792-57_14792-56insTGT	NP_996816.2:n.14792-57_14792-56insTGT
NM_206933.4:c.14792-57_14792-56insTGT MANE Select	NP_996816.3:n.14792-57_14792-56insTGT