Canonical Allele Identifier: CA2747721893

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799190_215799191insAGAT , CM000663.2:g.215799190_215799191insAGAT	GRCh38
NC_000001.10:g.215972532_215972533insAGAT , CM000663.1:g.215972532_215972533insAGAT	GRCh37
NC_000001.9:g.214039155_214039156insAGAT	NCBI36
NG_009497.1:g.629206_629207insATCT
NG_009497.2:g.629258_629259insATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9740-66_9740-65insATCT MANE Select	ENSP00000305941.3:n.9740-66_9740-65insATCT
ENST00000674083.1:c.9740-66_9740-65insATCT	ENSP00000501296.1:n.9740-66_9740-65insATCT
ENST00000307340.7:c.9740-66_9740-65insATCT	ENSP00000305941.3:n.9740-66_9740-65insATCT
NM_206933.2:c.9740-66_9740-65insATCT	NP_996816.2:n.9740-66_9740-65insATCT
NM_206933.3:c.9740-66_9740-65insATCT	NP_996816.2:n.9740-66_9740-65insATCT
NM_206933.4:c.9740-66_9740-65insATCT MANE Select	NP_996816.3:n.9740-66_9740-65insATCT