Canonical Allele Identifier: CA2747738036

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216324426_216324427insGTC , CM000663.2:g.216324426_216324427insGTC	GRCh38
NC_000001.10:g.216497768_216497769insGTC , CM000663.1:g.216497768_216497769insGTC	GRCh37
NC_000001.9:g.214564391_214564392insGTC	NCBI36
NG_009497.1:g.103970_103971insGAC
NG_009497.2:g.104022_104023insGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.1144-75_1144-74insGAC MANE Select	ENSP00000305941.3:n.1144-75_1144-74insGAC
ENST00000674083.1:c.1144-75_1144-74insGAC	ENSP00000501296.1:n.1144-75_1144-74insGAC
ENST00000307340.7:c.1144-75_1144-74insGAC	ENSP00000305941.3:n.1144-75_1144-74insGAC
ENST00000366942.3:c.1144-75_1144-74insGAC	ENSP00000355909.3:n.1144-75_1144-74insGAC
NM_007123.5:c.1144-75_1144-74insGAC	NP_009054.5:n.1144-75_1144-74insGAC
NM_206933.2:c.1144-75_1144-74insGAC	NP_996816.2:n.1144-75_1144-74insGAC
NM_206933.3:c.1144-75_1144-74insGAC	NP_996816.2:n.1144-75_1144-74insGAC
NM_007123.6:c.1144-75_1144-74insGAC	NP_009054.6:n.1144-75_1144-74insGAC
NM_206933.4:c.1144-75_1144-74insGAC MANE Select	NP_996816.3:n.1144-75_1144-74insGAC