Canonical Allele Identifier: CA2747720772

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780130_215780131insAG , CM000663.2:g.215780130_215780131insAG	GRCh38
NC_000001.10:g.215953472_215953473insAG , CM000663.1:g.215953472_215953473insAG	GRCh37
NC_000001.9:g.214020095_214020096insAG	NCBI36
NG_009497.1:g.648266_648267insCT
NG_009497.2:g.648318_648319insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10741-90_10741-89insCT MANE Select	ENSP00000305941.3:n.10741-90_10741-89insCT
ENST00000674083.1:c.10741-90_10741-89insCT	ENSP00000501296.1:n.10741-90_10741-89insCT
ENST00000307340.7:c.10741-90_10741-89insCT	ENSP00000305941.3:n.10741-90_10741-89insCT
NM_206933.2:c.10741-90_10741-89insCT	NP_996816.2:n.10741-90_10741-89insCT
NM_206933.3:c.10741-90_10741-89insCT	NP_996816.2:n.10741-90_10741-89insCT
NM_206933.4:c.10741-90_10741-89insCT MANE Select	NP_996816.3:n.10741-90_10741-89insCT