Canonical Allele Identifier: CA2747720746

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780106_215780107insC , CM000663.2:g.215780106_215780107insC	GRCh38
NC_000001.10:g.215953448_215953449insC , CM000663.1:g.215953448_215953449insC	GRCh37
NC_000001.9:g.214020071_214020072insC	NCBI36
NG_009497.1:g.648290_648291insG
NG_009497.2:g.648342_648343insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10741-66_10741-65insG MANE Select	ENSP00000305941.3:n.10741-66_10741-65insG
ENST00000674083.1:c.10741-66_10741-65insG	ENSP00000501296.1:n.10741-66_10741-65insG
ENST00000307340.7:c.10741-66_10741-65insG	ENSP00000305941.3:n.10741-66_10741-65insG
NM_206933.2:c.10741-66_10741-65insG	NP_996816.2:n.10741-66_10741-65insG
NM_206933.3:c.10741-66_10741-65insG	NP_996816.2:n.10741-66_10741-65insG
NM_206933.4:c.10741-66_10741-65insG MANE Select	NP_996816.3:n.10741-66_10741-65insG