Canonical Allele Identifier: CA2747721909

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799206_215799217del , CM000663.2:g.215799206_215799217del	GRCh38
NC_000001.10:g.215972548_215972559del , CM000663.1:g.215972548_215972559del	GRCh37
NC_000001.9:g.214039171_214039182del	NCBI36
NG_009497.1:g.629180_629191del
NG_009497.2:g.629232_629243del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9740-92_9740-81del MANE Select	ENSP00000305941.3:n.9740-92_9740-81del
ENST00000674083.1:c.9740-92_9740-81del	ENSP00000501296.1:n.9740-92_9740-81del
ENST00000307340.7:c.9740-92_9740-81del	ENSP00000305941.3:n.9740-92_9740-81del
NM_206933.2:c.9740-92_9740-81del	NP_996816.2:n.9740-92_9740-81del
NM_206933.3:c.9740-92_9740-81del	NP_996816.2:n.9740-92_9740-81del
NM_206933.4:c.9740-92_9740-81del MANE Select	NP_996816.3:n.9740-92_9740-81del