Canonical Allele Identifier: CA2747721883

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799177_215799189del , CM000663.2:g.215799177_215799189del	GRCh38
NC_000001.10:g.215972519_215972531del , CM000663.1:g.215972519_215972531del	GRCh37
NC_000001.9:g.214039142_214039154del	NCBI36
NG_009497.1:g.629210_629222del
NG_009497.2:g.629262_629274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9740-62_9740-50del MANE Select	ENSP00000305941.3:n.9740-62_9740-50del
ENST00000674083.1:c.9740-62_9740-50del	ENSP00000501296.1:n.9740-62_9740-50del
ENST00000307340.7:c.9740-62_9740-50del	ENSP00000305941.3:n.9740-62_9740-50del
NM_206933.2:c.9740-62_9740-50del	NP_996816.2:n.9740-62_9740-50del
NM_206933.3:c.9740-62_9740-50del	NP_996816.2:n.9740-62_9740-50del
NM_206933.4:c.9740-62_9740-50del MANE Select	NP_996816.3:n.9740-62_9740-50del