Canonical Allele Identifier: CA2747720821

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780149_215780150del , CM000663.2:g.215780149_215780150del	GRCh38
NC_000001.10:g.215953491_215953492del , CM000663.1:g.215953491_215953492del	GRCh37
NC_000001.9:g.214020114_214020115del	NCBI36
NG_009497.1:g.648247_648248del
NG_009497.2:g.648299_648300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10741-109_10741-108del MANE Select	ENSP00000305941.3:n.10741-109_10741-108del
ENST00000674083.1:c.10741-109_10741-108del	ENSP00000501296.1:n.10741-109_10741-108del
ENST00000307340.7:c.10741-109_10741-108del	ENSP00000305941.3:n.10741-109_10741-108del
NM_206933.2:c.10741-109_10741-108del	NP_996816.2:n.10741-109_10741-108del
NM_206933.3:c.10741-109_10741-108del	NP_996816.2:n.10741-109_10741-108del
NM_206933.4:c.10741-109_10741-108del MANE Select	NP_996816.3:n.10741-109_10741-108del