Canonical Allele Identifier: CA227616

Gene: CRX

Linked Data

• ClinVar Variation Id: 99598
• ClinVar RCV Id: RCV000085993 ; RCV001073568
• dbSNP Id: rs62636512
• MyVariant Identifiers: chr19:g.48337721dupG (hg19) ; chr19:g.47834464dupG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47834467dup , CM000681.2:g.47834467dup	GRCh38
NC_000019.9:g.48337724dup , CM000681.1:g.48337724dup	GRCh37
NC_000019.8:g.53029536dup	NCBI36
NG_008605.1:g.17626dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221996.12:c.24dup MANE Select	ENSP00000221996.5:p.Pro9AlafsTer?
ENST00000221996.11:c.24dup	ENSP00000221996.5:p.Pro9AlafsTer?
ENST00000539067.5:c.24dup	ENSP00000445565.1:p.Pro9AlafsTer?
ENST00000556527.1:n.78-1776dup
ENST00000566686.5:c.24dup	ENSP00000457808.2:p.Pro9AlafsTer?
ENST00000613299.1:c.24dup	ENSP00000478106.1:p.Pro9AlafsTer?
NM_000554.4:c.24dup	NP_000545.1:p.Pro9AlafsTer?
NM_000554.5:c.24dup	NP_000545.1:p.Pro9AlafsTer?
NM_000554.6:c.24dup MANE Select	NP_000545.1:p.Pro9AlafsTer?