Canonical Allele Identifier: CA2747720377

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215766839_215766840insACG , CM000663.2:g.215766839_215766840insACG	GRCh38
NC_000001.10:g.215940181_215940182insACG , CM000663.1:g.215940181_215940182insACG	GRCh37
NC_000001.9:g.214006804_214006805insACG	NCBI36
NG_009497.1:g.661557_661558insCGT
NG_009497.2:g.661609_661610insCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10940-52_10940-51insCGT MANE Select	ENSP00000305941.3:n.10940-52_10940-51insCGT
ENST00000674083.1:c.10940-52_10940-51insCGT	ENSP00000501296.1:n.10940-52_10940-51insCGT
ENST00000307340.7:c.10940-52_10940-51insCGT	ENSP00000305941.3:n.10940-52_10940-51insCGT
NM_206933.2:c.10940-52_10940-51insCGT	NP_996816.2:n.10940-52_10940-51insCGT
NM_206933.3:c.10940-52_10940-51insCGT	NP_996816.2:n.10940-52_10940-51insCGT
NM_206933.4:c.10940-52_10940-51insCGT MANE Select	NP_996816.3:n.10940-52_10940-51insCGT