Canonical Allele Identifier: CA2747721024

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782273_215782274insACA , CM000663.2:g.215782273_215782274insACA	GRCh38
NC_000001.10:g.215955615_215955616insACA , CM000663.1:g.215955615_215955616insACA	GRCh37
NC_000001.9:g.214022238_214022239insACA	NCBI36
NG_009497.1:g.646123_646124insTGT
NG_009497.2:g.646175_646176insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-78_10586-77insTGT MANE Select	ENSP00000305941.3:n.10586-78_10586-77insTGT
ENST00000674083.1:c.10586-78_10586-77insTGT	ENSP00000501296.1:n.10586-78_10586-77insTGT
ENST00000307340.7:c.10586-78_10586-77insTGT	ENSP00000305941.3:n.10586-78_10586-77insTGT
NM_206933.2:c.10586-78_10586-77insTGT	NP_996816.2:n.10586-78_10586-77insTGT
NM_206933.3:c.10586-78_10586-77insTGT	NP_996816.2:n.10586-78_10586-77insTGT
NM_206933.4:c.10586-78_10586-77insTGT MANE Select	NP_996816.3:n.10586-78_10586-77insTGT