Canonical Allele Identifier: CA2814624997
Gene: CRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47834553_47834554insA , CM000681.2:g.47834553_47834554insA GRCh38
NC_000019.9:g.48337810_48337811insA , CM000681.1:g.48337810_48337811insA GRCh37
NC_000019.8:g.53029622_53029623insA NCBI36
NG_008605.1:g.17712_17713insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000221996.12:c.100+10_100+11insA MANE Select ENSP00000221996.5:n.100+10_100+11insA
ENST00000221996.11:c.100+10_100+11insA ENSP00000221996.5:n.100+10_100+11insA
ENST00000539067.5:c.100+10_100+11insA ENSP00000445565.1:n.100+10_100+11insA
ENST00000556527.1:n.78-1690_78-1689insA
ENST00000566686.5:c.100+10_100+11insA ENSP00000457808.2:n.100+10_100+11insA
ENST00000613299.1:c.100+10_100+11insA ENSP00000478106.1:n.100+10_100+11insA
NM_000554.4:c.100+10_100+11insA NP_000545.1:n.100+10_100+11insA
NM_000554.5:c.100+10_100+11insA NP_000545.1:n.100+10_100+11insA
NM_000554.6:c.100+10_100+11insA MANE Select NP_000545.1:n.100+10_100+11insA