Canonical Allele Identifier: CA1220372253

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671366_215671372delinsAGGCCTT , CM000663.2:g.215671366_215671372delinsAGGCCTT	GRCh38
NC_000001.10:g.215844708_215844714delinsAGGCCTT , CM000663.1:g.215844708_215844714delinsAGGCCTT	GRCh37
NC_000001.9:g.213911331_213911337delinsAGGCCTT	NCBI36
NG_009497.1:g.757025_757031delinsAAGGCCT
NG_009497.2:g.757077_757083delinsAAGGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13812-79_13812-73delinsAAGGCCT MANE Select	ENSP00000305941.3:n.13812-79_13812-73delinsAAGGCCT
ENST00000674083.1:c.13812-79_13812-73delinsAAGGCCT	ENSP00000501296.1:n.13812-79_13812-73delinsAAGGCCT
ENST00000307340.7:c.13812-79_13812-73delinsAAGGCCT	ENSP00000305941.3:n.13812-79_13812-73delinsAAGGCCT
NM_206933.2:c.13812-79_13812-73delinsAAGGCCT	NP_996816.2:n.13812-79_13812-73delinsAAGGCCT
NM_206933.3:c.13812-79_13812-73delinsAAGGCCT	NP_996816.2:n.13812-79_13812-73delinsAAGGCCT
NM_206933.4:c.13812-79_13812-73delinsAAGGCCT MANE Select	NP_996816.3:n.13812-79_13812-73delinsAAGGCCT