Canonical Allele Identifier: CA2747721004

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782246_215782254del , CM000663.2:g.215782246_215782254del	GRCh38
NC_000001.10:g.215955588_215955596del , CM000663.1:g.215955588_215955596del	GRCh37
NC_000001.9:g.214022211_214022219del	NCBI36
NG_009497.1:g.646143_646151del
NG_009497.2:g.646195_646203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-58_10586-50del MANE Select	ENSP00000305941.3:n.10586-58_10586-50del
ENST00000674083.1:c.10586-58_10586-50del	ENSP00000501296.1:n.10586-58_10586-50del
ENST00000307340.7:c.10586-58_10586-50del	ENSP00000305941.3:n.10586-58_10586-50del
NM_206933.2:c.10586-58_10586-50del	NP_996816.2:n.10586-58_10586-50del
NM_206933.3:c.10586-58_10586-50del	NP_996816.2:n.10586-58_10586-50del
NM_206933.4:c.10586-58_10586-50del MANE Select	NP_996816.3:n.10586-58_10586-50del