Canonical Allele Identifier: CA2586123730

Gene: CRX

Linked Data

• gnomAD v4: 19-47834566-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47834567del , CM000681.2:g.47834567del	GRCh38
NC_000019.9:g.48337824del , CM000681.1:g.48337824del	GRCh37
NC_000019.8:g.53029636del	NCBI36
NG_008605.1:g.17726del

Transcript Alleles

HGVS	Amino-acid change
ENST00000221996.12:c.100+24del MANE Select	ENSP00000221996.5:n.100+24del
ENST00000221996.11:c.100+24del	ENSP00000221996.5:n.100+24del
ENST00000539067.5:c.100+24del	ENSP00000445565.1:n.100+24del
ENST00000556527.1:n.78-1676del
ENST00000566686.5:c.100+24del	ENSP00000457808.2:n.100+24del
ENST00000613299.1:c.100+24del	ENSP00000478106.1:n.100+24del
NM_000554.4:c.100+24del	NP_000545.1:n.100+24del
NM_000554.5:c.100+24del	NP_000545.1:n.100+24del
NM_000554.6:c.100+24del MANE Select	NP_000545.1:n.100+24del