Canonical Allele Identifier: CA2747721044

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782301_215782302insAC , CM000663.2:g.215782301_215782302insAC	GRCh38
NC_000001.10:g.215955643_215955644insAC , CM000663.1:g.215955643_215955644insAC	GRCh37
NC_000001.9:g.214022266_214022267insAC	NCBI36
NG_009497.1:g.646095_646096insGT
NG_009497.2:g.646147_646148insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-106_10586-105insGT MANE Select	ENSP00000305941.3:n.10586-106_10586-105insGT
ENST00000674083.1:c.10586-106_10586-105insGT	ENSP00000501296.1:n.10586-106_10586-105insGT
ENST00000307340.7:c.10586-106_10586-105insGT	ENSP00000305941.3:n.10586-106_10586-105insGT
NM_206933.2:c.10586-106_10586-105insGT	NP_996816.2:n.10586-106_10586-105insGT
NM_206933.3:c.10586-106_10586-105insGT	NP_996816.2:n.10586-106_10586-105insGT
NM_206933.4:c.10586-106_10586-105insGT MANE Select	NP_996816.3:n.10586-106_10586-105insGT