Canonical Allele Identifier: CA2513813738

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215779883_215779884insTTTGAT , CM000663.2:g.215779883_215779884insTTTGAT	GRCh38
NC_000001.10:g.215953225_215953226insTTTGAT , CM000663.1:g.215953225_215953226insTTTGAT	GRCh37
NC_000001.9:g.214019848_214019849insTTTGAT	NCBI36
NG_009497.1:g.648513_648514insATCAAA
NG_009497.2:g.648565_648566insATCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10898_10899insATCAAA MANE Select	ENSP00000305941.3:p.Ile3633_His3634insSerAsn
ENST00000674083.1:c.10898_10899insATCAAA	ENSP00000501296.1:p.Ile3633_His3634insSerAsn
ENST00000307340.7:c.10898_10899insATCAAA	ENSP00000305941.3:p.Ile3633_His3634insSerAsn
NM_206933.2:c.10898_10899insATCAAA	NP_996816.2:p.Ile3633_His3634insSerAsn
NM_206933.3:c.10898_10899insATCAAA	NP_996816.2:p.Ile3633_His3634insSerAsn
NM_206933.4:c.10898_10899insATCAAA MANE Select	NP_996816.3:p.Ile3633_His3634insSerAsn