Canonical Allele Identifier: CA2747729432

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070427_216070428insAC , CM000663.2:g.216070427_216070428insAC	GRCh38
NC_000001.10:g.216243769_216243770insAC , CM000663.1:g.216243769_216243770insAC	GRCh37
NC_000001.9:g.214310392_214310393insAC	NCBI36
NG_009497.1:g.357969_357970insGT
NG_009497.2:g.358021_358022insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-136_5858-135insGT MANE Select	ENSP00000305941.3:n.5858-136_5858-135insGT
ENST00000674083.1:c.5858-136_5858-135insGT	ENSP00000501296.1:n.5858-136_5858-135insGT
ENST00000307340.7:c.5858-136_5858-135insGT	ENSP00000305941.3:n.5858-136_5858-135insGT
NM_206933.2:c.5858-136_5858-135insGT	NP_996816.2:n.5858-136_5858-135insGT
NM_206933.3:c.5858-136_5858-135insGT	NP_996816.2:n.5858-136_5858-135insGT
NM_206933.4:c.5858-136_5858-135insGT MANE Select	NP_996816.3:n.5858-136_5858-135insGT