Canonical Allele Identifier: CA1220359842

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640884_215640887delinsCCTT , CM000663.2:g.215640884_215640887delinsCCTT	GRCh38
NC_000001.10:g.215814226_215814229delinsCCTT , CM000663.1:g.215814226_215814229delinsCCTT	GRCh37
NC_000001.9:g.213880849_213880852delinsCCTT	NCBI36
NG_009497.1:g.787510_787513delinsAAGG
NG_009497.2:g.787562_787565delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-153_14792-150delinsAAGG MANE Select	ENSP00000305941.3:n.14792-153_14792-150delinsAAGG
ENST00000674083.1:c.14792-153_14792-150delinsAAGG	ENSP00000501296.1:n.14792-153_14792-150delinsAAGG
ENST00000307340.7:c.14792-153_14792-150delinsAAGG	ENSP00000305941.3:n.14792-153_14792-150delinsAAGG
NM_206933.2:c.14792-153_14792-150delinsAAGG	NP_996816.2:n.14792-153_14792-150delinsAAGG
NM_206933.3:c.14792-153_14792-150delinsAAGG	NP_996816.2:n.14792-153_14792-150delinsAAGG
NM_206933.4:c.14792-153_14792-150delinsAAGG MANE Select	NP_996816.3:n.14792-153_14792-150delinsAAGG