Canonical Allele Identifier: CA2747721041

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782298_215782299del , CM000663.2:g.215782298_215782299del	GRCh38
NC_000001.10:g.215955640_215955641del , CM000663.1:g.215955640_215955641del	GRCh37
NC_000001.9:g.214022263_214022264del	NCBI36
NG_009497.1:g.646098_646099del
NG_009497.2:g.646150_646151del

Transcript Alleles

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