Canonical Allele Identifier: CA2747720388

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215766860_215766861insGT , CM000663.2:g.215766860_215766861insGT	GRCh38
NC_000001.10:g.215940202_215940203insGT , CM000663.1:g.215940202_215940203insGT	GRCh37
NC_000001.9:g.214006825_214006826insGT	NCBI36
NG_009497.1:g.661536_661537insAC
NG_009497.2:g.661588_661589insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10940-73_10940-72insAC MANE Select	ENSP00000305941.3:n.10940-73_10940-72insAC
ENST00000674083.1:c.10940-73_10940-72insAC	ENSP00000501296.1:n.10940-73_10940-72insAC
ENST00000307340.7:c.10940-73_10940-72insAC	ENSP00000305941.3:n.10940-73_10940-72insAC
NM_206933.2:c.10940-73_10940-72insAC	NP_996816.2:n.10940-73_10940-72insAC
NM_206933.3:c.10940-73_10940-72insAC	NP_996816.2:n.10940-73_10940-72insAC
NM_206933.4:c.10940-73_10940-72insAC MANE Select	NP_996816.3:n.10940-73_10940-72insAC