Canonical Allele Identifier: CA2747735800

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247223_216247224insCT , CM000663.2:g.216247223_216247224insCT	GRCh38
NC_000001.10:g.216420565_216420566insCT , CM000663.1:g.216420565_216420566insCT	GRCh37
NC_000001.9:g.214487188_214487189insCT	NCBI36
NG_009497.1:g.181173_181174insAG
NG_009497.2:g.181225_181226insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2170_2171insAG MANE Select	ENSP00000305941.3:p.Leu724GlnfsTer?
ENST00000674083.1:c.2170_2171insAG	ENSP00000501296.1:p.Leu724GlnfsTer?
ENST00000307340.7:c.2170_2171insAG	ENSP00000305941.3:p.Leu724GlnfsTer?
ENST00000366942.3:c.2170_2171insAG	ENSP00000355909.3:p.Leu724GlnfsTer?
NM_007123.5:c.2170_2171insAG	NP_009054.5:p.Leu724GlnfsTer?
NM_206933.2:c.2170_2171insAG	NP_996816.2:p.Leu724GlnfsTer?
NM_206933.3:c.2170_2171insAG	NP_996816.2:p.Leu724GlnfsTer?
NM_007123.6:c.2170_2171insAG	NP_009054.6:p.Leu724GlnfsTer?
NM_206933.4:c.2170_2171insAG MANE Select	NP_996816.3:p.Leu724GlnfsTer?