Canonical Allele Identifier: CA2747720766

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780126_215780127insAGAC , CM000663.2:g.215780126_215780127insAGAC	GRCh38
NC_000001.10:g.215953468_215953469insAGAC , CM000663.1:g.215953468_215953469insAGAC	GRCh37
NC_000001.9:g.214020091_214020092insAGAC	NCBI36
NG_009497.1:g.648270_648271insGTCT
NG_009497.2:g.648322_648323insGTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10741-86_10741-85insGTCT MANE Select	ENSP00000305941.3:n.10741-86_10741-85insGTCT
ENST00000674083.1:c.10741-86_10741-85insGTCT	ENSP00000501296.1:n.10741-86_10741-85insGTCT
ENST00000307340.7:c.10741-86_10741-85insGTCT	ENSP00000305941.3:n.10741-86_10741-85insGTCT
NM_206933.2:c.10741-86_10741-85insGTCT	NP_996816.2:n.10741-86_10741-85insGTCT
NM_206933.3:c.10741-86_10741-85insGTCT	NP_996816.2:n.10741-86_10741-85insGTCT
NM_206933.4:c.10741-86_10741-85insGTCT MANE Select	NP_996816.3:n.10741-86_10741-85insGTCT