Canonical Allele Identifier: CA2747720827

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780152_215780153insA , CM000663.2:g.215780152_215780153insA	GRCh38
NC_000001.10:g.215953494_215953495insA , CM000663.1:g.215953494_215953495insA	GRCh37
NC_000001.9:g.214020117_214020118insA	NCBI36
NG_009497.1:g.648244_648245insT
NG_009497.2:g.648296_648297insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10741-112_10741-111insT MANE Select	ENSP00000305941.3:n.10741-112_10741-111insT
ENST00000674083.1:c.10741-112_10741-111insT	ENSP00000501296.1:n.10741-112_10741-111insT
ENST00000307340.7:c.10741-112_10741-111insT	ENSP00000305941.3:n.10741-112_10741-111insT
NM_206933.2:c.10741-112_10741-111insT	NP_996816.2:n.10741-112_10741-111insT
NM_206933.3:c.10741-112_10741-111insT	NP_996816.2:n.10741-112_10741-111insT
NM_206933.4:c.10741-112_10741-111insT MANE Select	NP_996816.3:n.10741-112_10741-111insT