Canonical Allele Identifier: CA1220542894

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070453_216070454delinsAC , CM000663.2:g.216070453_216070454delinsAC	GRCh38
NC_000001.10:g.216243795_216243796delinsAC , CM000663.1:g.216243795_216243796delinsAC	GRCh37
NC_000001.9:g.214310418_214310419delinsAC	NCBI36
NG_009497.1:g.357943_357944delinsGT
NG_009497.2:g.357995_357996delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-162_5858-161delinsGT MANE Select	ENSP00000305941.3:n.5858-162_5858-161delinsGT
ENST00000674083.1:c.5858-162_5858-161delinsGT	ENSP00000501296.1:n.5858-162_5858-161delinsGT
ENST00000307340.7:c.5858-162_5858-161delinsGT	ENSP00000305941.3:n.5858-162_5858-161delinsGT
NM_206933.2:c.5858-162_5858-161delinsGT	NP_996816.2:n.5858-162_5858-161delinsGT
NM_206933.3:c.5858-162_5858-161delinsGT	NP_996816.2:n.5858-162_5858-161delinsGT
NM_206933.4:c.5858-162_5858-161delinsGT MANE Select	NP_996816.3:n.5858-162_5858-161delinsGT