Canonical Allele Identifier: CA2339606536
Gene: CRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47834546_47834548delinsGAG , CM000681.2:g.47834546_47834548delinsGAG GRCh38
NC_000019.9:g.48337803_48337805delinsGAG , CM000681.1:g.48337803_48337805delinsGAG GRCh37
NC_000019.8:g.53029615_53029617delinsGAG NCBI36
NG_008605.1:g.17705_17707delinsGAG

Transcript Alleles

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