Canonical Allele Identifier: CA2747722585

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817291_215817292insGAC , CM000663.2:g.215817291_215817292insGAC	GRCh38
NC_000001.10:g.215990633_215990634insGAC , CM000663.1:g.215990633_215990634insGAC	GRCh37
NC_000001.9:g.214057256_214057257insGAC	NCBI36
NG_009497.1:g.611105_611106insGTC
NG_009497.2:g.611157_611158insGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-97_9372-96insGTC MANE Select	ENSP00000305941.3:n.9372-97_9372-96insGTC
ENST00000674083.1:c.9372-97_9372-96insGTC	ENSP00000501296.1:n.9372-97_9372-96insGTC
ENST00000307340.7:c.9372-97_9372-96insGTC	ENSP00000305941.3:n.9372-97_9372-96insGTC
NM_206933.2:c.9372-97_9372-96insGTC	NP_996816.2:n.9372-97_9372-96insGTC
NM_206933.3:c.9372-97_9372-96insGTC	NP_996816.2:n.9372-97_9372-96insGTC
NM_206933.4:c.9372-97_9372-96insGTC MANE Select	NP_996816.3:n.9372-97_9372-96insGTC