Canonical Allele Identifier: CA1140563640

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782384_215782386delinsAAA , CM000663.2:g.215782384_215782386delinsAAA	GRCh38
NC_000001.10:g.215955726_215955728delinsAAA , CM000663.1:g.215955726_215955728delinsAAA	GRCh37
NC_000001.9:g.214022349_214022351delinsAAA	NCBI36
NG_009497.1:g.646011_646013delinsTTT
NG_009497.2:g.646063_646065delinsTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-190_10586-188delinsTTT MANE Select	ENSP00000305941.3:n.10586-190_10586-188delinsTTT
ENST00000674083.1:c.10586-190_10586-188delinsTTT	ENSP00000501296.1:n.10586-190_10586-188delinsTTT
ENST00000307340.7:c.10586-190_10586-188delinsTTT	ENSP00000305941.3:n.10586-190_10586-188delinsTTT
NM_206933.2:c.10586-190_10586-188delinsTTT	NP_996816.2:n.10586-190_10586-188delinsTTT
NM_206933.3:c.10586-190_10586-188delinsTTT	NP_996816.2:n.10586-190_10586-188delinsTTT
NM_206933.4:c.10586-190_10586-188delinsTTT MANE Select	NP_996816.3:n.10586-190_10586-188delinsTTT