Canonical Allele Identifier: CA1220652418

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216324141_216324145delinsAAATT , CM000663.2:g.216324141_216324145delinsAAATT	GRCh38
NC_000001.10:g.216497483_216497487delinsAAATT , CM000663.1:g.216497483_216497487delinsAAATT	GRCh37
NC_000001.9:g.214564106_214564110delinsAAATT	NCBI36
NG_009497.1:g.104252_104256delinsAATTT
NG_009497.2:g.104304_104308delinsAATTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.1328+23_1328+27delinsAATTT MANE Select	ENSP00000305941.3:n.1328+23_1328+27delins...
ENST00000674083.1:c.1328+23_1328+27delinsAATTT	ENSP00000501296.1:n.1328+23_1328+27delins...
ENST00000307340.7:c.1328+23_1328+27delinsAATTT	ENSP00000305941.3:n.1328+23_1328+27delins...
ENST00000366942.3:c.1328+23_1328+27delinsAATTT	ENSP00000355909.3:n.1328+23_1328+27delins...
NM_007123.5:c.1328+23_1328+27delinsAATTT	NP_009054.5:n.1328+23_1328+27delinsAATTT
NM_206933.2:c.1328+23_1328+27delinsAATTT	NP_996816.2:n.1328+23_1328+27delinsAATTT
NM_206933.3:c.1328+23_1328+27delinsAATTT	NP_996816.2:n.1328+23_1328+27delinsAATTT
NM_007123.6:c.1328+23_1328+27delinsAATTT	NP_009054.6:n.1328+23_1328+27delinsAATTT
NM_206933.4:c.1328+23_1328+27delinsAATTT MANE Select	NP_996816.3:n.1328+23_1328+27delinsAATTT