Canonical Allele Identifier: CA2747720818

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780146_215780147insACTC , CM000663.2:g.215780146_215780147insACTC	GRCh38
NC_000001.10:g.215953488_215953489insACTC , CM000663.1:g.215953488_215953489insACTC	GRCh37
NC_000001.9:g.214020111_214020112insACTC	NCBI36
NG_009497.1:g.648250_648251insGAGT
NG_009497.2:g.648302_648303insGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10741-106_10741-105insGAGT MANE Select	ENSP00000305941.3:n.10741-106_10741-105insGAGT
ENST00000674083.1:c.10741-106_10741-105insGAGT	ENSP00000501296.1:n.10741-106_10741-105insGAGT
ENST00000307340.7:c.10741-106_10741-105insGAGT	ENSP00000305941.3:n.10741-106_10741-105insGAGT
NM_206933.2:c.10741-106_10741-105insGAGT	NP_996816.2:n.10741-106_10741-105insGAGT
NM_206933.3:c.10741-106_10741-105insGAGT	NP_996816.2:n.10741-106_10741-105insGAGT
NM_206933.4:c.10741-106_10741-105insGAGT MANE Select	NP_996816.3:n.10741-106_10741-105insGAGT