Canonical Allele Identifier: CA2747720787

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780136_215780137insAG , CM000663.2:g.215780136_215780137insAG	GRCh38
NC_000001.10:g.215953478_215953479insAG , CM000663.1:g.215953478_215953479insAG	GRCh37
NC_000001.9:g.214020101_214020102insAG	NCBI36
NG_009497.1:g.648261_648262insTC
NG_009497.2:g.648313_648314insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10741-95_10741-94insTC MANE Select	ENSP00000305941.3:n.10741-95_10741-94insTC
ENST00000674083.1:c.10741-95_10741-94insTC	ENSP00000501296.1:n.10741-95_10741-94insTC
ENST00000307340.7:c.10741-95_10741-94insTC	ENSP00000305941.3:n.10741-95_10741-94insTC
NM_206933.2:c.10741-95_10741-94insTC	NP_996816.2:n.10741-95_10741-94insTC
NM_206933.3:c.10741-95_10741-94insTC	NP_996816.2:n.10741-95_10741-94insTC
NM_206933.4:c.10741-95_10741-94insTC MANE Select	NP_996816.3:n.10741-95_10741-94insTC