Canonical Allele Identifier: CA1220412902

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215766835_215766842delinsTATTATCA , CM000663.2:g.215766835_215766842delinsTATTATCA	GRCh38
NC_000001.10:g.215940177_215940184delinsTATTATCA , CM000663.1:g.215940177_215940184delinsTATTATCA	GRCh37
NC_000001.9:g.214006800_214006807delinsTATTATCA	NCBI36
NG_009497.1:g.661555_661562delinsTGATAATA
NG_009497.2:g.661607_661614delinsTGATAATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10940-54_10940-47delinsTGATAATA MANE Select	ENSP00000305941.3:n.10940-54_10940-47delinsTGATAATA
ENST00000674083.1:c.10940-54_10940-47delinsTGATAATA	ENSP00000501296.1:n.10940-54_10940-47delinsTGATAATA
ENST00000307340.7:c.10940-54_10940-47delinsTGATAATA	ENSP00000305941.3:n.10940-54_10940-47delinsTGATAATA
NM_206933.2:c.10940-54_10940-47delinsTGATAATA	NP_996816.2:n.10940-54_10940-47delinsTGATAATA
NM_206933.3:c.10940-54_10940-47delinsTGATAATA	NP_996816.2:n.10940-54_10940-47delinsTGATAATA
NM_206933.4:c.10940-54_10940-47delinsTGATAATA MANE Select	NP_996816.3:n.10940-54_10940-47delinsTGATAATA