Canonical Allele Identifier: CA913072747

Gene: USH2A

Linked Data

• MyVariant Identifiers: chr1:g.215844461_215844462del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671119_215671120del , CM000663.2:g.215671119_215671120del	GRCh38
NC_000001.10:g.215844461_215844462del , CM000663.1:g.215844461_215844462del	GRCh37
NC_000001.9:g.213911084_213911085del	NCBI36
NG_009497.1:g.757277_757278del
NG_009497.2:g.757329_757330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13985_13986del MANE Select	ENSP00000305941.3:p.Gln4662ProfsTer20
ENST00000674083.1:c.13985_13986del	ENSP00000501296.1:p.Gln4662ProfsTer20
ENST00000307340.7:c.13985_13986del	ENSP00000305941.3:p.Gln4662ProfsTer20
NM_206933.2:c.13985_13986del	NP_996816.2:p.Gln4662ProfsTer20
NM_206933.3:c.13985_13986del	NP_996816.2:p.Gln4662ProfsTer20
NM_206933.4:c.13985_13986del MANE Select	NP_996816.3:p.Gln4662ProfsTer20