Canonical Allele Identifier: CA2747720905

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780189_215780194del , CM000663.2:g.215780189_215780194del	GRCh38
NC_000001.10:g.215953531_215953536del , CM000663.1:g.215953531_215953536del	GRCh37
NC_000001.9:g.214020154_214020159del	NCBI36
NG_009497.1:g.648203_648208del
NG_009497.2:g.648255_648260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10741-153_10741-148del MANE Select	ENSP00000305941.3:n.10741-153_10741-148del
ENST00000674083.1:c.10741-153_10741-148del	ENSP00000501296.1:n.10741-153_10741-148del
ENST00000307340.7:c.10741-153_10741-148del	ENSP00000305941.3:n.10741-153_10741-148del
NM_206933.2:c.10741-153_10741-148del	NP_996816.2:n.10741-153_10741-148del
NM_206933.3:c.10741-153_10741-148del	NP_996816.2:n.10741-153_10741-148del
NM_206933.4:c.10741-153_10741-148del MANE Select	NP_996816.3:n.10741-153_10741-148del