Canonical Allele Identifier: CA2586123734

Gene: CRX

Linked Data

• gnomAD v4: 19-47834568-ACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47834576_47834621del , CM000681.2:g.47834576_47834621del	GRCh38
NC_000019.9:g.48337833_48337878del , CM000681.1:g.48337833_48337878del	GRCh37
NC_000019.8:g.53029645_53029690del	NCBI36
NG_008605.1:g.17735_17780del

Transcript Alleles

HGVS	Amino-acid change
ENST00000221996.12:c.100+33_100+78del MANE Select	ENSP00000221996.5:n.100+33_100+78del
ENST00000221996.11:c.100+33_100+78del	ENSP00000221996.5:n.100+33_100+78del
ENST00000539067.5:c.100+33_100+78del	ENSP00000445565.1:n.100+33_100+78del
ENST00000556527.1:n.78-1667_78-1622del
ENST00000566686.5:c.100+33_100+78del	ENSP00000457808.2:n.100+33_100+78del
ENST00000613299.1:c.100+33_100+78del	ENSP00000478106.1:n.100+33_100+78del
NM_000554.4:c.100+33_100+78del	NP_000545.1:n.100+33_100+78del
NM_000554.5:c.100+33_100+78del	NP_000545.1:n.100+33_100+78del
NM_000554.6:c.100+33_100+78del MANE Select	NP_000545.1:n.100+33_100+78del