Canonical Allele Identifier: CA2747733546

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216175478_216175479insACA , CM000663.2:g.216175478_216175479insACA	GRCh38
NC_000001.10:g.216348820_216348821insACA , CM000663.1:g.216348820_216348821insACA	GRCh37
NC_000001.9:g.214415443_214415444insACA	NCBI36
NG_009497.1:g.252918_252919insTGT
NG_009497.2:g.252970_252971insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.4400_4401insTGT MANE Select	ENSP00000305941.3:p.Pro1467_Ala1468insVal
ENST00000674083.1:c.4400_4401insTGT	ENSP00000501296.1:p.Pro1467_Ala1468insVal
ENST00000307340.7:c.4400_4401insTGT	ENSP00000305941.3:p.Pro1467_Ala1468insVal
ENST00000366942.3:c.4400_4401insTGT	ENSP00000355909.3:p.Pro1467_Ala1468insVal
NM_007123.5:c.4400_4401insTGT	NP_009054.5:p.Pro1467_Ala1468insVal
NM_206933.2:c.4400_4401insTGT	NP_996816.2:p.Pro1467_Ala1468insVal
NM_206933.3:c.4400_4401insTGT	NP_996816.2:p.Pro1467_Ala1468insVal
NM_007123.6:c.4400_4401insTGT	NP_009054.6:p.Pro1467_Ala1468insVal
NM_206933.4:c.4400_4401insTGT MANE Select	NP_996816.3:p.Pro1467_Ala1468insVal