Canonical Allele Identifier: CA1220359826

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640861_215640863delinsAAG , CM000663.2:g.215640861_215640863delinsAAG	GRCh38
NC_000001.10:g.215814203_215814205delinsAAG , CM000663.1:g.215814203_215814205delinsAAG	GRCh37
NC_000001.9:g.213880826_213880828delinsAAG	NCBI36
NG_009497.1:g.787534_787536delinsCTT
NG_009497.2:g.787586_787588delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-129_14792-127delinsCTT MANE Select	ENSP00000305941.3:n.14792-129_14792-127delinsCTT
ENST00000674083.1:c.14792-129_14792-127delinsCTT	ENSP00000501296.1:n.14792-129_14792-127delinsCTT
ENST00000307340.7:c.14792-129_14792-127delinsCTT	ENSP00000305941.3:n.14792-129_14792-127delinsCTT
NM_206933.2:c.14792-129_14792-127delinsCTT	NP_996816.2:n.14792-129_14792-127delinsCTT
NM_206933.3:c.14792-129_14792-127delinsCTT	NP_996816.2:n.14792-129_14792-127delinsCTT
NM_206933.4:c.14792-129_14792-127delinsCTT MANE Select	NP_996816.3:n.14792-129_14792-127delinsCTT