Canonical Allele Identifier: CA2747721921

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799213_215799227del , CM000663.2:g.215799213_215799227del	GRCh38
NC_000001.10:g.215972555_215972569del , CM000663.1:g.215972555_215972569del	GRCh37
NC_000001.9:g.214039178_214039192del	NCBI36
NG_009497.1:g.629170_629184del
NG_009497.2:g.629222_629236del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9740-102_9740-88del MANE Select	ENSP00000305941.3:n.9740-102_9740-88del
ENST00000674083.1:c.9740-102_9740-88del	ENSP00000501296.1:n.9740-102_9740-88del
ENST00000307340.7:c.9740-102_9740-88del	ENSP00000305941.3:n.9740-102_9740-88del
NM_206933.2:c.9740-102_9740-88del	NP_996816.2:n.9740-102_9740-88del
NM_206933.3:c.9740-102_9740-88del	NP_996816.2:n.9740-102_9740-88del
NM_206933.4:c.9740-102_9740-88del MANE Select	NP_996816.3:n.9740-102_9740-88del