Canonical Allele Identifier: CA2747720879

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780172_215780173insACA , CM000663.2:g.215780172_215780173insACA	GRCh38
NC_000001.10:g.215953514_215953515insACA , CM000663.1:g.215953514_215953515insACA	GRCh37
NC_000001.9:g.214020137_214020138insACA	NCBI36
NG_009497.1:g.648224_648225insTGT
NG_009497.2:g.648276_648277insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10741-132_10741-131insTGT MANE Select	ENSP00000305941.3:n.10741-132_10741-131insTGT
ENST00000674083.1:c.10741-132_10741-131insTGT	ENSP00000501296.1:n.10741-132_10741-131insTGT
ENST00000307340.7:c.10741-132_10741-131insTGT	ENSP00000305941.3:n.10741-132_10741-131insTGT
NM_206933.2:c.10741-132_10741-131insTGT	NP_996816.2:n.10741-132_10741-131insTGT
NM_206933.3:c.10741-132_10741-131insTGT	NP_996816.2:n.10741-132_10741-131insTGT
NM_206933.4:c.10741-132_10741-131insTGT MANE Select	NP_996816.3:n.10741-132_10741-131insTGT