Canonical Allele Identifier: CA2747716454

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640796_215640797insGT , CM000663.2:g.215640796_215640797insGT	GRCh38
NC_000001.10:g.215814138_215814139insGT , CM000663.1:g.215814138_215814139insGT	GRCh37
NC_000001.9:g.213880761_213880762insGT	NCBI36
NG_009497.1:g.787600_787601insAC
NG_009497.2:g.787652_787653insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-63_14792-62insAC MANE Select	ENSP00000305941.3:n.14792-63_14792-62insAC
ENST00000674083.1:c.14792-63_14792-62insAC	ENSP00000501296.1:n.14792-63_14792-62insAC
ENST00000307340.7:c.14792-63_14792-62insAC	ENSP00000305941.3:n.14792-63_14792-62insAC
NM_206933.2:c.14792-63_14792-62insAC	NP_996816.2:n.14792-63_14792-62insAC
NM_206933.3:c.14792-63_14792-62insAC	NP_996816.2:n.14792-63_14792-62insAC
NM_206933.4:c.14792-63_14792-62insAC MANE Select	NP_996816.3:n.14792-63_14792-62insAC