Canonical Allele Identifier: CA2747721040

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782295_215782296insC , CM000663.2:g.215782295_215782296insC	GRCh38
NC_000001.10:g.215955637_215955638insC , CM000663.1:g.215955637_215955638insC	GRCh37
NC_000001.9:g.214022260_214022261insC	NCBI36
NG_009497.1:g.646101_646102insG
NG_009497.2:g.646153_646154insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-100_10586-99insG MANE Select	ENSP00000305941.3:n.10586-100_10586-99insG
ENST00000674083.1:c.10586-100_10586-99insG	ENSP00000501296.1:n.10586-100_10586-99insG
ENST00000307340.7:c.10586-100_10586-99insG	ENSP00000305941.3:n.10586-100_10586-99insG
NM_206933.2:c.10586-100_10586-99insG	NP_996816.2:n.10586-100_10586-99insG
NM_206933.3:c.10586-100_10586-99insG	NP_996816.2:n.10586-100_10586-99insG
NM_206933.4:c.10586-100_10586-99insG MANE Select	NP_996816.3:n.10586-100_10586-99insG