Canonical Allele Identifier: CA2747721931

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799229_215799230insCC , CM000663.2:g.215799229_215799230insCC	GRCh38
NC_000001.10:g.215972571_215972572insCC , CM000663.1:g.215972571_215972572insCC	GRCh37
NC_000001.9:g.214039194_214039195insCC	NCBI36
NG_009497.1:g.629168_629169insGG
NG_009497.2:g.629220_629221insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9740-104_9740-103insGG MANE Select	ENSP00000305941.3:n.9740-104_9740-103insGG
ENST00000674083.1:c.9740-104_9740-103insGG	ENSP00000501296.1:n.9740-104_9740-103insGG
ENST00000307340.7:c.9740-104_9740-103insGG	ENSP00000305941.3:n.9740-104_9740-103insGG
NM_206933.2:c.9740-104_9740-103insGG	NP_996816.2:n.9740-104_9740-103insGG
NM_206933.3:c.9740-104_9740-103insGG	NP_996816.2:n.9740-104_9740-103insGG
NM_206933.4:c.9740-104_9740-103insGG MANE Select	NP_996816.3:n.9740-104_9740-103insGG