Canonical Allele Identifier: CA16620868
Gene: CRX HGNC NCBI

Linked Data

ClinVar Variation Id: 422939
ClinVar RCV Id: RCV000485254 RCV001054464
dbSNP Id: rs1064796109
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47834546_47834548delinsTTA , CM000681.2:g.47834546_47834548delinsTTA GRCh38
NC_000019.9:g.48337803_48337805delinsTTA , CM000681.1:g.48337803_48337805delinsTTA GRCh37
NC_000019.8:g.53029615_53029617delinsTTA NCBI36
NG_008605.1:g.17705_17707delinsTTA

Transcript Alleles

HGVS Amino-acid change
ENST00000221996.12:c.100+3_100+5delinsTTA MANE Select ENSP00000221996.5:n.100+3_100+5delinsTTA
ENST00000221996.11:c.100+3_100+5delinsTTA ENSP00000221996.5:n.100+3_100+5delinsTTA
ENST00000539067.5:c.100+3_100+5delinsTTA ENSP00000445565.1:n.100+3_100+5delinsTTA
ENST00000556527.1:n.78-1697_78-1695delinsTTA
ENST00000566686.5:c.100+3_100+5delinsTTA ENSP00000457808.2:n.100+3_100+5delinsTTA
ENST00000613299.1:c.100+3_100+5delinsTTA ENSP00000478106.1:n.100+3_100+5delinsTTA
NM_000554.4:c.100+3_100+5delinsTTA NP_000545.1:n.100+3_100+5delinsTTA
NM_000554.5:c.100+3_100+5delinsTTA NP_000545.1:n.100+3_100+5delinsTTA
NM_000554.6:c.100+3_100+5delinsTTA MANE Select NP_000545.1:n.100+3_100+5delinsTTA
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