Canonical Allele Identifier: CA2747716534

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640862_215640863insAAAAAACAAA , CM000663.2:g.215640862_215640863insAAAAAACAAA	GRCh38
NC_000001.10:g.215814204_215814205insAAAAAACAAA , CM000663.1:g.215814204_215814205insAAAAAACAAA	GRCh37
NC_000001.9:g.213880827_213880828insAAAAAACAAA	NCBI36
NG_009497.1:g.787537_787538insGTTTTTTTTT
NG_009497.2:g.787589_787590insGTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-126_14792-125insGTTTTTTTTT MANE Select	ENSP00000305941.3:n.14792-126_14792-125insGTTTTTTTTT
ENST00000674083.1:c.14792-126_14792-125insGTTTTTTTTT	ENSP00000501296.1:n.14792-126_14792-125insGTTTTTTTTT
ENST00000307340.7:c.14792-126_14792-125insGTTTTTTTTT	ENSP00000305941.3:n.14792-126_14792-125insGTTTTTTTTT
NM_206933.2:c.14792-126_14792-125insGTTTTTTTTT	NP_996816.2:n.14792-126_14792-125insGTTTTTTTTT
NM_206933.3:c.14792-126_14792-125insGTTTTTTTTT	NP_996816.2:n.14792-126_14792-125insGTTTTTTTTT
NM_206933.4:c.14792-126_14792-125insGTTTTTTTTT MANE Select	NP_996816.3:n.14792-126_14792-125insGTTTTTTTTT