Canonical Allele Identifier: CA2747720369

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215766820_215766821insACA , CM000663.2:g.215766820_215766821insACA	GRCh38
NC_000001.10:g.215940162_215940163insACA , CM000663.1:g.215940162_215940163insACA	GRCh37
NC_000001.9:g.214006785_214006786insACA	NCBI36
NG_009497.1:g.661576_661577insTGT
NG_009497.2:g.661628_661629insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10940-33_10940-32insTGT MANE Select	ENSP00000305941.3:n.10940-33_10940-32insTGT
ENST00000674083.1:c.10940-33_10940-32insTGT	ENSP00000501296.1:n.10940-33_10940-32insTGT
ENST00000307340.7:c.10940-33_10940-32insTGT	ENSP00000305941.3:n.10940-33_10940-32insTGT
NM_206933.2:c.10940-33_10940-32insTGT	NP_996816.2:n.10940-33_10940-32insTGT
NM_206933.3:c.10940-33_10940-32insTGT	NP_996816.2:n.10940-33_10940-32insTGT
NM_206933.4:c.10940-33_10940-32insTGT MANE Select	NP_996816.3:n.10940-33_10940-32insTGT