Canonical Allele Identifier: CA2747729447

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070463_216070464insA , CM000663.2:g.216070463_216070464insA	GRCh38
NC_000001.10:g.216243805_216243806insA , CM000663.1:g.216243805_216243806insA	GRCh37
NC_000001.9:g.214310428_214310429insA	NCBI36
NG_009497.1:g.357933_357934insT
NG_009497.2:g.357985_357986insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-172_5858-171insT MANE Select	ENSP00000305941.3:n.5858-172_5858-171insT
ENST00000674083.1:c.5858-172_5858-171insT	ENSP00000501296.1:n.5858-172_5858-171insT
ENST00000307340.7:c.5858-172_5858-171insT	ENSP00000305941.3:n.5858-172_5858-171insT
NM_206933.2:c.5858-172_5858-171insT	NP_996816.2:n.5858-172_5858-171insT
NM_206933.3:c.5858-172_5858-171insT	NP_996816.2:n.5858-172_5858-171insT
NM_206933.4:c.5858-172_5858-171insT MANE Select	NP_996816.3:n.5858-172_5858-171insT