Canonical Allele Identifier: CA1220359858

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640922_215640923delinsCA , CM000663.2:g.215640922_215640923delinsCA	GRCh38
NC_000001.10:g.215814264_215814265delinsCA , CM000663.1:g.215814264_215814265delinsCA	GRCh37
NC_000001.9:g.213880887_213880888delinsCA	NCBI36
NG_009497.1:g.787474_787475delinsTG
NG_009497.2:g.787526_787527delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-189_14792-188delinsTG MANE Select	ENSP00000305941.3:n.14792-189_14792-188delinsTG
ENST00000674083.1:c.14792-189_14792-188delinsTG	ENSP00000501296.1:n.14792-189_14792-188delinsTG
ENST00000307340.7:c.14792-189_14792-188delinsTG	ENSP00000305941.3:n.14792-189_14792-188delinsTG
NM_206933.2:c.14792-189_14792-188delinsTG	NP_996816.2:n.14792-189_14792-188delinsTG
NM_206933.3:c.14792-189_14792-188delinsTG	NP_996816.2:n.14792-189_14792-188delinsTG
NM_206933.4:c.14792-189_14792-188delinsTG MANE Select	NP_996816.3:n.14792-189_14792-188delinsTG