Canonical Allele Identifier: CA1220619314

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247232_216247233delinsGA , CM000663.2:g.216247232_216247233delinsGA	GRCh38
NC_000001.10:g.216420574_216420575delinsGA , CM000663.1:g.216420574_216420575delinsGA	GRCh37
NC_000001.9:g.214487197_214487198delinsGA	NCBI36
NG_009497.1:g.181164_181165delinsTC
NG_009497.2:g.181216_181217delinsTC

Transcript Alleles

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