Canonical Allele Identifier: CA2747716513

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640862_215640863insAAAAAAAACAAAACCAACCAAACAAAAAAAAAAAAAAAAAA , CM000663.2:g.215640862_215640863insAAAAAAAACAAAACCAACCAAACAAAAAAAAAAAAAAAAAA	GRCh38
NC_000001.10:g.215814204_215814205insAAAAAAAACAAAACCAACCAAACAAAAAAAAAAAAAAAAAA , CM000663.1:g.215814204_215814205insAAAAAAAACAAAACCAACCAAACAAAAAAAAAAAAAAAAAA	GRCh37
NC_000001.9:g.213880827_213880828insAAAAAAAACAAAACCAACCAAACAAAAAAAAAAAAAAAAAA	NCBI36
NG_009497.1:g.787558_787559insTTGGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGG
NG_009497.2:g.787610_787611insTTGGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-105_14792-104insTTGGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGG MANE Select	ENSP00000305941.3:n.14792-105_14792-104insTTGGTTTTGTTTTTTTTTT...
ENST00000674083.1:c.14792-105_14792-104insTTGGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGG	ENSP00000501296.1:n.14792-105_14792-104insTTGGTTTTGTTTTTTTTTT...
ENST00000307340.7:c.14792-105_14792-104insTTGGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGG	ENSP00000305941.3:n.14792-105_14792-104insTTGGTTTTGTTTTTTTTTT...
NM_206933.2:c.14792-105_14792-104insTTGGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGG	NP_996816.2:n.14792-105_14792-104insTTGGTTTTGTTTTTTTTTTTTTTTT...
NM_206933.3:c.14792-105_14792-104insTTGGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGG	NP_996816.2:n.14792-105_14792-104insTTGGTTTTGTTTTTTTTTTTTTTTT...
NM_206933.4:c.14792-105_14792-104insTTGGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGG MANE Select	NP_996816.3:n.14792-105_14792-104insTTGGTTTTGTTTTTTTTTTTTTTTT...