Canonical Allele Identifier: CA1220372173

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671161_215671163delinsTCC , CM000663.2:g.215671161_215671163delinsTCC	GRCh38
NC_000001.10:g.215844503_215844505delinsTCC , CM000663.1:g.215844503_215844505delinsTCC	GRCh37
NC_000001.9:g.213911126_213911128delinsTCC	NCBI36
NG_009497.1:g.757234_757236delinsGGA
NG_009497.2:g.757286_757288delinsGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13942_13944delinsGGA MANE Select	ENSP00000305941.3:p.Gly4648=
ENST00000674083.1:c.13942_13944delinsGGA	ENSP00000501296.1:p.Gly4648=
ENST00000307340.7:c.13942_13944delinsGGA	ENSP00000305941.3:p.Gly4648=
NM_206933.2:c.13942_13944delinsGGA	NP_996816.2:p.Gly4648=
NM_206933.3:c.13942_13944delinsGGA	NP_996816.2:p.Gly4648=
NM_206933.4:c.13942_13944delinsGGA MANE Select	NP_996816.3:p.Gly4648=