Canonical Allele Identifier: CA2747716490

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640820_215640821insCAT , CM000663.2:g.215640820_215640821insCAT	GRCh38
NC_000001.10:g.215814162_215814163insCAT , CM000663.1:g.215814162_215814163insCAT	GRCh37
NC_000001.9:g.213880785_213880786insCAT	NCBI36
NG_009497.1:g.787576_787577insATG
NG_009497.2:g.787628_787629insATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-87_14792-86insATG MANE Select	ENSP00000305941.3:n.14792-87_14792-86insATG
ENST00000674083.1:c.14792-87_14792-86insATG	ENSP00000501296.1:n.14792-87_14792-86insATG
ENST00000307340.7:c.14792-87_14792-86insATG	ENSP00000305941.3:n.14792-87_14792-86insATG
NM_206933.2:c.14792-87_14792-86insATG	NP_996816.2:n.14792-87_14792-86insATG
NM_206933.3:c.14792-87_14792-86insATG	NP_996816.2:n.14792-87_14792-86insATG
NM_206933.4:c.14792-87_14792-86insATG MANE Select	NP_996816.3:n.14792-87_14792-86insATG