Canonical Allele Identifier: CA1220372074

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215670876_215670879delinsCTTT , CM000663.2:g.215670876_215670879delinsCTTT	GRCh38
NC_000001.10:g.215844218_215844221delinsCTTT , CM000663.1:g.215844218_215844221delinsCTTT	GRCh37
NC_000001.9:g.213910841_213910844delinsCTTT	NCBI36
NG_009497.1:g.757518_757521delinsAAAG
NG_009497.2:g.757570_757573delinsAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14133+93_14133+96delinsAAAG MANE Select	ENSP00000305941.3:n.14133+93_14133+96delinsAAAG
ENST00000674083.1:c.14133+93_14133+96delinsAAAG	ENSP00000501296.1:n.14133+93_14133+96delinsAAAG
ENST00000307340.7:c.14133+93_14133+96delinsAAAG	ENSP00000305941.3:n.14133+93_14133+96delinsAAAG
NM_206933.2:c.14133+93_14133+96delinsAAAG	NP_996816.2:n.14133+93_14133+96delinsAAAG
NM_206933.3:c.14133+93_14133+96delinsAAAG	NP_996816.2:n.14133+93_14133+96delinsAAAG
NM_206933.4:c.14133+93_14133+96delinsAAAG MANE Select	NP_996816.3:n.14133+93_14133+96delinsAAAG