Canonical Allele Identifier: CA2747721045

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782303_215782304insC , CM000663.2:g.215782303_215782304insC	GRCh38
NC_000001.10:g.215955645_215955646insC , CM000663.1:g.215955645_215955646insC	GRCh37
NC_000001.9:g.214022268_214022269insC	NCBI36
NG_009497.1:g.646093_646094insG
NG_009497.2:g.646145_646146insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-108_10586-107insG MANE Select	ENSP00000305941.3:n.10586-108_10586-107insG
ENST00000674083.1:c.10586-108_10586-107insG	ENSP00000501296.1:n.10586-108_10586-107insG
ENST00000307340.7:c.10586-108_10586-107insG	ENSP00000305941.3:n.10586-108_10586-107insG
NM_206933.2:c.10586-108_10586-107insG	NP_996816.2:n.10586-108_10586-107insG
NM_206933.3:c.10586-108_10586-107insG	NP_996816.2:n.10586-108_10586-107insG
NM_206933.4:c.10586-108_10586-107insG MANE Select	NP_996816.3:n.10586-108_10586-107insG