Canonical Allele Identifier: CA1220542888

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070449_216070450delinsCT , CM000663.2:g.216070449_216070450delinsCT	GRCh38
NC_000001.10:g.216243791_216243792delinsCT , CM000663.1:g.216243791_216243792delinsCT	GRCh37
NC_000001.9:g.214310414_214310415delinsCT	NCBI36
NG_009497.1:g.357947_357948delinsAG
NG_009497.2:g.357999_358000delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-158_5858-157delinsAG MANE Select	ENSP00000305941.3:n.5858-158_5858-157delinsAG
ENST00000674083.1:c.5858-158_5858-157delinsAG	ENSP00000501296.1:n.5858-158_5858-157delinsAG
ENST00000307340.7:c.5858-158_5858-157delinsAG	ENSP00000305941.3:n.5858-158_5858-157delinsAG
NM_206933.2:c.5858-158_5858-157delinsAG	NP_996816.2:n.5858-158_5858-157delinsAG
NM_206933.3:c.5858-158_5858-157delinsAG	NP_996816.2:n.5858-158_5858-157delinsAG
NM_206933.4:c.5858-158_5858-157delinsAG MANE Select	NP_996816.3:n.5858-158_5858-157delinsAG