Canonical Allele Identifier: CA2747729412

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070396_216070397insAGG , CM000663.2:g.216070396_216070397insAGG	GRCh38
NC_000001.10:g.216243738_216243739insAGG , CM000663.1:g.216243738_216243739insAGG	GRCh37
NC_000001.9:g.214310361_214310362insAGG	NCBI36
NG_009497.1:g.358000_358001insCCT
NG_009497.2:g.358052_358053insCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-105_5858-104insCCT MANE Select	ENSP00000305941.3:n.5858-105_5858-104insCCT
ENST00000674083.1:c.5858-105_5858-104insCCT	ENSP00000501296.1:n.5858-105_5858-104insCCT
ENST00000307340.7:c.5858-105_5858-104insCCT	ENSP00000305941.3:n.5858-105_5858-104insCCT
NM_206933.2:c.5858-105_5858-104insCCT	NP_996816.2:n.5858-105_5858-104insCCT
NM_206933.3:c.5858-105_5858-104insCCT	NP_996816.2:n.5858-105_5858-104insCCT
NM_206933.4:c.5858-105_5858-104insCCT MANE Select	NP_996816.3:n.5858-105_5858-104insCCT