Canonical Allele Identifier: CA2747721897

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799194_215799195insAGA , CM000663.2:g.215799194_215799195insAGA	GRCh38
NC_000001.10:g.215972536_215972537insAGA , CM000663.1:g.215972536_215972537insAGA	GRCh37
NC_000001.9:g.214039159_214039160insAGA	NCBI36
NG_009497.1:g.629202_629203insTCT
NG_009497.2:g.629254_629255insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9740-70_9740-69insTCT MANE Select	ENSP00000305941.3:n.9740-70_9740-69insTCT
ENST00000674083.1:c.9740-70_9740-69insTCT	ENSP00000501296.1:n.9740-70_9740-69insTCT
ENST00000307340.7:c.9740-70_9740-69insTCT	ENSP00000305941.3:n.9740-70_9740-69insTCT
NM_206933.2:c.9740-70_9740-69insTCT	NP_996816.2:n.9740-70_9740-69insTCT
NM_206933.3:c.9740-70_9740-69insTCT	NP_996816.2:n.9740-70_9740-69insTCT
NM_206933.4:c.9740-70_9740-69insTCT MANE Select	NP_996816.3:n.9740-70_9740-69insTCT