Canonical Allele Identifier: CA2747716509

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640837_215640838insGACAAACAAAAAAAAAAAAAAAAAAAAAAACAAAACCGAACAAA , CM000663.2:g.215640837_215640838insGACAAACAAAAAAAAAAAAAAAAAAAAAAACAAAACCGAACAAA	GRCh38
NC_000001.10:g.215814179_215814180insGACAAACAAAAAAAAAAAAAAAAAAAAAAACAAAACCGAACAAA , CM000663.1:g.215814179_215814180insGACAAACAAAAAAAAAAAAAAAAAAAAAAACAAAACCGAACAAA	GRCh37
NC_000001.9:g.213880802_213880803insGACAAACAAAAAAAAAAAAAAAAAAAAAAACAAAACCGAACAAA	NCBI36
NG_009497.1:g.787561_787562insTGTTCGGTTTTGTTTTTTTTTTTTTTTTTTTTTTTGTTTGTCTT
NG_009497.2:g.787613_787614insTGTTCGGTTTTGTTTTTTTTTTTTTTTTTTTTTTTGTTTGTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-102_14792-101insTGTTCGGTTTTGTTTTTTTTTTTTTTTTTTTTTTTGTTTGTCTT MANE Select	ENSP00000305941.3:n.14792-102_14792-101insTGTTCGGTTTTGTTTTTTT...
ENST00000674083.1:c.14792-102_14792-101insTGTTCGGTTTTGTTTTTTTTTTTTTTTTTTTTTTTGTTTGTCTT	ENSP00000501296.1:n.14792-102_14792-101insTGTTCGGTTTTGTTTTTTT...
ENST00000307340.7:c.14792-102_14792-101insTGTTCGGTTTTGTTTTTTTTTTTTTTTTTTTTTTTGTTTGTCTT	ENSP00000305941.3:n.14792-102_14792-101insTGTTCGGTTTTGTTTTTTT...
NM_206933.2:c.14792-102_14792-101insTGTTCGGTTTTGTTTTTTTTTTTTTTTTTTTTTTTGTTTGTCTT	NP_996816.2:n.14792-102_14792-101insTGTTCGGTTTTGTTTTTTTTTTTTT...
NM_206933.3:c.14792-102_14792-101insTGTTCGGTTTTGTTTTTTTTTTTTTTTTTTTTTTTGTTTGTCTT	NP_996816.2:n.14792-102_14792-101insTGTTCGGTTTTGTTTTTTTTTTTTT...
NM_206933.4:c.14792-102_14792-101insTGTTCGGTTTTGTTTTTTTTTTTTTTTTTTTTTTTGTTTGTCTT MANE Select	NP_996816.3:n.14792-102_14792-101insTGTTCGGTTTTGTTTTTTTTTTTTT...