Canonical Allele Identifier: CA2747721042

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782298_215782299insACA , CM000663.2:g.215782298_215782299insACA	GRCh38
NC_000001.10:g.215955640_215955641insACA , CM000663.1:g.215955640_215955641insACA	GRCh37
NC_000001.9:g.214022263_214022264insACA	NCBI36
NG_009497.1:g.646098_646099insTGT
NG_009497.2:g.646150_646151insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-103_10586-102insTGT MANE Select	ENSP00000305941.3:n.10586-103_10586-102insTGT
ENST00000674083.1:c.10586-103_10586-102insTGT	ENSP00000501296.1:n.10586-103_10586-102insTGT
ENST00000307340.7:c.10586-103_10586-102insTGT	ENSP00000305941.3:n.10586-103_10586-102insTGT
NM_206933.2:c.10586-103_10586-102insTGT	NP_996816.2:n.10586-103_10586-102insTGT
NM_206933.3:c.10586-103_10586-102insTGT	NP_996816.2:n.10586-103_10586-102insTGT
NM_206933.4:c.10586-103_10586-102insTGT MANE Select	NP_996816.3:n.10586-103_10586-102insTGT