Canonical Allele Identifier: CA2747720775

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780132_215780133insA , CM000663.2:g.215780132_215780133insA	GRCh38
NC_000001.10:g.215953474_215953475insA , CM000663.1:g.215953474_215953475insA	GRCh37
NC_000001.9:g.214020097_214020098insA	NCBI36
NG_009497.1:g.648264_648265insT
NG_009497.2:g.648316_648317insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10741-92_10741-91insT MANE Select	ENSP00000305941.3:n.10741-92_10741-91insT
ENST00000674083.1:c.10741-92_10741-91insT	ENSP00000501296.1:n.10741-92_10741-91insT
ENST00000307340.7:c.10741-92_10741-91insT	ENSP00000305941.3:n.10741-92_10741-91insT
NM_206933.2:c.10741-92_10741-91insT	NP_996816.2:n.10741-92_10741-91insT
NM_206933.3:c.10741-92_10741-91insT	NP_996816.2:n.10741-92_10741-91insT
NM_206933.4:c.10741-92_10741-91insT MANE Select	NP_996816.3:n.10741-92_10741-91insT