Canonical Allele Identifier: CA2747716416

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640775_215640776insACA , CM000663.2:g.215640775_215640776insACA	GRCh38
NC_000001.10:g.215814117_215814118insACA , CM000663.1:g.215814117_215814118insACA	GRCh37
NC_000001.9:g.213880740_213880741insACA	NCBI36
NG_009497.1:g.787621_787622insTGT
NG_009497.2:g.787673_787674insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-42_14792-41insTGT MANE Select	ENSP00000305941.3:n.14792-42_14792-41insTGT
ENST00000674083.1:c.14792-42_14792-41insTGT	ENSP00000501296.1:n.14792-42_14792-41insTGT
ENST00000307340.7:c.14792-42_14792-41insTGT	ENSP00000305941.3:n.14792-42_14792-41insTGT
NM_206933.2:c.14792-42_14792-41insTGT	NP_996816.2:n.14792-42_14792-41insTGT
NM_206933.3:c.14792-42_14792-41insTGT	NP_996816.2:n.14792-42_14792-41insTGT
NM_206933.4:c.14792-42_14792-41insTGT MANE Select	NP_996816.3:n.14792-42_14792-41insTGT