Canonical Allele Identifier: CA1220652632

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216324682_216324685delinsTTAA , CM000663.2:g.216324682_216324685delinsTTAA	GRCh38
NC_000001.10:g.216498024_216498027delinsTTAA , CM000663.1:g.216498024_216498027delinsTTAA	GRCh37
NC_000001.9:g.214564647_214564650delinsTTAA	NCBI36
NG_009497.1:g.103712_103715delinsTTAA
NG_009497.2:g.103764_103767delinsTTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.1144-333_1144-330delinsTTAA MANE Select	ENSP00000305941.3:n.1144-333_1144-330delinsTTAA
ENST00000674083.1:c.1144-333_1144-330delinsTTAA	ENSP00000501296.1:n.1144-333_1144-330delinsTTAA
ENST00000307340.7:c.1144-333_1144-330delinsTTAA	ENSP00000305941.3:n.1144-333_1144-330delinsTTAA
ENST00000366942.3:c.1144-333_1144-330delinsTTAA	ENSP00000355909.3:n.1144-333_1144-330delinsTTAA
NM_007123.5:c.1144-333_1144-330delinsTTAA	NP_009054.5:n.1144-333_1144-330delinsTTAA
NM_206933.2:c.1144-333_1144-330delinsTTAA	NP_996816.2:n.1144-333_1144-330delinsTTAA
NM_206933.3:c.1144-333_1144-330delinsTTAA	NP_996816.2:n.1144-333_1144-330delinsTTAA
NM_007123.6:c.1144-333_1144-330delinsTTAA	NP_009054.6:n.1144-333_1144-330delinsTTAA
NM_206933.4:c.1144-333_1144-330delinsTTAA MANE Select	NP_996816.3:n.1144-333_1144-330delinsTTAA