Canonical Allele Identifier: CA2747716530

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640857_215640858insCACACCC , CM000663.2:g.215640857_215640858insCACACCC	GRCh38
NC_000001.10:g.215814199_215814200insCACACCC , CM000663.1:g.215814199_215814200insCACACCC	GRCh37
NC_000001.9:g.213880822_213880823insCACACCC	NCBI36
NG_009497.1:g.787539_787540insGGGTGTG
NG_009497.2:g.787591_787592insGGGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-124_14792-123insGGGTGTG MANE Select	ENSP00000305941.3:n.14792-124_14792-123insGGGTGTG
ENST00000674083.1:c.14792-124_14792-123insGGGTGTG	ENSP00000501296.1:n.14792-124_14792-123insGGGTGTG
ENST00000307340.7:c.14792-124_14792-123insGGGTGTG	ENSP00000305941.3:n.14792-124_14792-123insGGGTGTG
NM_206933.2:c.14792-124_14792-123insGGGTGTG	NP_996816.2:n.14792-124_14792-123insGGGTGTG
NM_206933.3:c.14792-124_14792-123insGGGTGTG	NP_996816.2:n.14792-124_14792-123insGGGTGTG
NM_206933.4:c.14792-124_14792-123insGGGTGTG MANE Select	NP_996816.3:n.14792-124_14792-123insGGGTGTG