Canonical Allele Identifier: CA9544385

Gene: CRX

Linked Data

• dbSNP Id: rs762693224
• ExAC: 19:48337820 TTGGCACCCCAGGC / T
• gnomAD v2: 19-48337820-TTGGCACCCCAGGC-T
• MyVariant Identifiers: chr19:g.48337821_48337833del (hg19) ; chr19:g.47834564_47834576del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47834568_47834580del , CM000681.2:g.47834568_47834580del	GRCh38
NC_000019.9:g.48337825_48337837del , CM000681.1:g.48337825_48337837del	GRCh37
NC_000019.8:g.53029637_53029649del	NCBI36
NG_008605.1:g.17727_17739del

Transcript Alleles

HGVS	Amino-acid change
ENST00000221996.12:c.100+25_100+37del MANE Select	ENSP00000221996.5:n.100+25_100+37del
ENST00000221996.11:c.100+25_100+37del	ENSP00000221996.5:n.100+25_100+37del
ENST00000539067.5:c.100+25_100+37del	ENSP00000445565.1:n.100+25_100+37del
ENST00000556527.1:n.78-1675_78-1663del
ENST00000566686.5:c.100+25_100+37del	ENSP00000457808.2:n.100+25_100+37del
ENST00000613299.1:c.100+25_100+37del	ENSP00000478106.1:n.100+25_100+37del
NM_000554.4:c.100+25_100+37del	NP_000545.1:n.100+25_100+37del
NM_000554.5:c.100+25_100+37del	NP_000545.1:n.100+25_100+37del
NM_000554.6:c.100+25_100+37del MANE Select	NP_000545.1:n.100+25_100+37del