Canonical Allele Identifier: CA3044589078

Gene: CRX

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47836262_47836263delinsTT , CM000681.2:g.47836262_47836263delinsTT	GRCh38
NC_000019.9:g.48339519_48339520delinsTT , CM000681.1:g.48339519_48339520delinsTT	GRCh37
NC_000019.8:g.53031331_53031332delinsTT	NCBI36
NG_008605.1:g.19421_19422delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221996.12:c.120_121delinsTT MANE Select	ENSP00000221996.5:p.Arg41Trp
ENST00000221996.11:c.120_121delinsTT	ENSP00000221996.5:p.Arg41Trp
ENST00000539067.5:c.120_121delinsTT	ENSP00000445565.1:p.Arg41Trp
ENST00000556527.1:n.97_98delinsTT
ENST00000566686.5:c.120_121delinsTT	ENSP00000457808.2:p.Arg41Trp
ENST00000613299.1:c.100+1719_100+1720delinsTT	ENSP00000478106.1:n.100+1719_100+1720delinsTT
NM_000554.4:c.120_121delinsTT	NP_000545.1:p.Arg41Trp
NM_000554.5:c.120_121delinsTT	NP_000545.1:p.Arg41Trp
NM_000554.6:c.120_121delinsTT MANE Select	NP_000545.1:p.Arg41Trp