Canonical Allele Identifier: CA1220588089

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216175341_216175342delinsAT , CM000663.2:g.216175341_216175342delinsAT	GRCh38
NC_000001.10:g.216348683_216348684delinsAT , CM000663.1:g.216348683_216348684delinsAT	GRCh37
NC_000001.9:g.214415306_214415307delinsAT	NCBI36
NG_009497.1:g.253055_253056delinsAT
NG_009497.2:g.253107_253108delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.4537_4538delinsAT MANE Select	ENSP00000305941.3:p.Met1513=
ENST00000674083.1:c.4537_4538delinsAT	ENSP00000501296.1:p.Met1513=
ENST00000307340.7:c.4537_4538delinsAT	ENSP00000305941.3:p.Met1513=
ENST00000366942.3:c.4537_4538delinsAT	ENSP00000355909.3:p.Met1513=
NM_007123.5:c.4537_4538delinsAT	NP_009054.5:p.Met1513=
NM_206933.2:c.4537_4538delinsAT	NP_996816.2:p.Met1513=
NM_206933.3:c.4537_4538delinsAT	NP_996816.2:p.Met1513=
NM_007123.6:c.4537_4538delinsAT	NP_009054.6:p.Met1513=
NM_206933.4:c.4537_4538delinsAT MANE Select	NP_996816.3:p.Met1513=