Canonical Allele Identifier: CA2650500198

Gene: USH2A

Linked Data

• gnomAD v4: 1-215670930-GCAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215670934_215670937del , CM000663.2:g.215670934_215670937del	GRCh38
NC_000001.10:g.215844276_215844279del , CM000663.1:g.215844276_215844279del	GRCh37
NC_000001.9:g.213910899_213910902del	NCBI36
NG_009497.1:g.757463_757466del
NG_009497.2:g.757515_757518del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14133+38_14133+41del MANE Select	ENSP00000305941.3:n.14133+38_14133+41del
ENST00000674083.1:c.14133+38_14133+41del	ENSP00000501296.1:n.14133+38_14133+41del
ENST00000307340.7:c.14133+38_14133+41del	ENSP00000305941.3:n.14133+38_14133+41del
NM_206933.2:c.14133+38_14133+41del	NP_996816.2:n.14133+38_14133+41del
NM_206933.3:c.14133+38_14133+41del	NP_996816.2:n.14133+38_14133+41del
NM_206933.4:c.14133+38_14133+41del MANE Select	NP_996816.3:n.14133+38_14133+41del