Canonical Allele Identifier: CA2747734610

Gene: USH2A USH2A-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216207399_216207400insCTA , CM000663.2:g.216207399_216207400insCTA	GRCh38
NC_000001.10:g.216380741_216380742insCTA , CM000663.1:g.216380741_216380742insCTA	GRCh37
NC_000001.9:g.214447364_214447365insCTA	NCBI36
NG_009497.1:g.220997_220998insTAG
NG_009497.2:g.221049_221050insTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3189_3190insTAG (USH2A)
ENST00000674083.1:c.3189_3190insTAG (USH2A)
ENST00000307340.7:c.3189_3190insTAG (USH2A)
ENST00000366942.3:c.3189_3190insTAG (USH2A)
NM_007123.5:c.3189_3190insTAG (USH2A)
NM_206933.2:c.3189_3190insTAG (USH2A)
XR_922596.1:n.354+11474_354+11475insCTA (USH2A-AS1)
XR_922597.1:n.354+11474_354+11475insCTA (USH2A-AS1)
XR_922596.3:n.1076+11474_1076+11475insCTA (USH2A-AS1)
NM_206933.3:c.3189_3190insTAG (USH2A)
NM_007123.6:c.3189_3190insTAG (USH2A)
NM_206933.4:c.3189_3190insTAG (USH2A)