Canonical Allele Identifier: CA1220619323

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247241_216247242delinsTA , CM000663.2:g.216247241_216247242delinsTA	GRCh38
NC_000001.10:g.216420583_216420584delinsTA , CM000663.1:g.216420583_216420584delinsTA	GRCh37
NC_000001.9:g.214487206_214487207delinsTA	NCBI36
NG_009497.1:g.181155_181156delinsTA
NG_009497.2:g.181207_181208delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2168-16_2168-15delinsTA MANE Select	ENSP00000305941.3:n.2168-16_2168-15delinsTA
ENST00000674083.1:c.2168-16_2168-15delinsTA	ENSP00000501296.1:n.2168-16_2168-15delinsTA
ENST00000307340.7:c.2168-16_2168-15delinsTA	ENSP00000305941.3:n.2168-16_2168-15delinsTA
ENST00000366942.3:c.2168-16_2168-15delinsTA	ENSP00000355909.3:n.2168-16_2168-15delinsTA
NM_007123.5:c.2168-16_2168-15delinsTA	NP_009054.5:n.2168-16_2168-15delinsTA
NM_206933.2:c.2168-16_2168-15delinsTA	NP_996816.2:n.2168-16_2168-15delinsTA
NM_206933.3:c.2168-16_2168-15delinsTA	NP_996816.2:n.2168-16_2168-15delinsTA
NM_007123.6:c.2168-16_2168-15delinsTA	NP_009054.6:n.2168-16_2168-15delinsTA
NM_206933.4:c.2168-16_2168-15delinsTA MANE Select	NP_996816.3:n.2168-16_2168-15delinsTA