Canonical Allele Identifier: CA2747729445

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070457_216070458insACA , CM000663.2:g.216070457_216070458insACA	GRCh38
NC_000001.10:g.216243799_216243800insACA , CM000663.1:g.216243799_216243800insACA	GRCh37
NC_000001.9:g.214310422_214310423insACA	NCBI36
NG_009497.1:g.357939_357940insTGT
NG_009497.2:g.357991_357992insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-166_5858-165insTGT MANE Select	ENSP00000305941.3:n.5858-166_5858-165insTGT
ENST00000674083.1:c.5858-166_5858-165insTGT	ENSP00000501296.1:n.5858-166_5858-165insTGT
ENST00000307340.7:c.5858-166_5858-165insTGT	ENSP00000305941.3:n.5858-166_5858-165insTGT
NM_206933.2:c.5858-166_5858-165insTGT	NP_996816.2:n.5858-166_5858-165insTGT
NM_206933.3:c.5858-166_5858-165insTGT	NP_996816.2:n.5858-166_5858-165insTGT
NM_206933.4:c.5858-166_5858-165insTGT MANE Select	NP_996816.3:n.5858-166_5858-165insTGT