Canonical Allele Identifier: CA1220688489

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216418695_216418696delinsGA , CM000663.2:g.216418695_216418696delinsGA	GRCh38
NC_000001.10:g.216592037_216592038delinsGA , CM000663.1:g.216592037_216592038delinsGA	GRCh37
NC_000001.9:g.214658660_214658661delinsGA	NCBI36
NG_009497.1:g.9701_9702delinsTC
NG_009497.2:g.9753_9754delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.486-17_486-16delinsTC MANE Select	ENSP00000305941.3:n.486-17_486-16delinsTC
ENST00000674083.1:c.486-17_486-16delinsTC	ENSP00000501296.1:n.486-17_486-16delinsTC
ENST00000307340.7:c.486-17_486-16delinsTC	ENSP00000305941.3:n.486-17_486-16delinsTC
ENST00000366942.3:c.486-17_486-16delinsTC	ENSP00000355909.3:n.486-17_486-16delinsTC
NM_007123.5:c.486-17_486-16delinsTC	NP_009054.5:n.486-17_486-16delinsTC
NM_206933.2:c.486-17_486-16delinsTC	NP_996816.2:n.486-17_486-16delinsTC
NM_206933.3:c.486-17_486-16delinsTC	NP_996816.2:n.486-17_486-16delinsTC
NM_007123.6:c.486-17_486-16delinsTC	NP_009054.6:n.486-17_486-16delinsTC
NM_206933.4:c.486-17_486-16delinsTC MANE Select	NP_996816.3:n.486-17_486-16delinsTC