Canonical Allele Identifier: CA2747737988

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216324366_216324367insACA , CM000663.2:g.216324366_216324367insACA	GRCh38
NC_000001.10:g.216497708_216497709insACA , CM000663.1:g.216497708_216497709insACA	GRCh37
NC_000001.9:g.214564331_214564332insACA	NCBI36
NG_009497.1:g.104030_104031insTGT
NG_009497.2:g.104082_104083insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.1144-15_1144-14insTGT MANE Select	ENSP00000305941.3:n.1144-15_1144-14insTGT
ENST00000674083.1:c.1144-15_1144-14insTGT	ENSP00000501296.1:n.1144-15_1144-14insTGT
ENST00000307340.7:c.1144-15_1144-14insTGT	ENSP00000305941.3:n.1144-15_1144-14insTGT
ENST00000366942.3:c.1144-15_1144-14insTGT	ENSP00000355909.3:n.1144-15_1144-14insTGT
NM_007123.5:c.1144-15_1144-14insTGT	NP_009054.5:n.1144-15_1144-14insTGT
NM_206933.2:c.1144-15_1144-14insTGT	NP_996816.2:n.1144-15_1144-14insTGT
NM_206933.3:c.1144-15_1144-14insTGT	NP_996816.2:n.1144-15_1144-14insTGT
NM_007123.6:c.1144-15_1144-14insTGT	NP_009054.6:n.1144-15_1144-14insTGT
NM_206933.4:c.1144-15_1144-14insTGT MANE Select	NP_996816.3:n.1144-15_1144-14insTGT