Canonical Allele Identifier: CA2695219476

Gene: RDH12 ZFYVE26 GPHN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67729212_67729216delinsT , CM000676.2:g.67729212_67729216delinsT	GRCh38
NC_000014.8:g.68195929_68195933delinsT , CM000676.1:g.68195929_68195933delinsT	GRCh37
NC_000014.7:g.67265682_67265686delinsT	NCBI36
NG_008321.1:g.32327_32331delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.680_684delinsT (RDH12) MANE Select	ENSP00000449079.1:p.Ala227ValfsTer?
ENST00000267502.3:c.680_684delinsT (RDH12)	ENSP00000267502.3:p.Ala227ValfsTer?
ENST00000394455.6:n.3283_3287delinsA (ZFYVE26)
ENST00000551171.5:c.680_684delinsT (RDH12)	ENSP00000449079.1:p.Ala227ValfsTer?
ENST00000552873.1:n.49_53delinsT (RDH12)
NM_152443.2:c.680_684delinsT (RDH12)	NP_689656.2:p.Ala227ValfsTer?
XM_017020925.2:c.1313-5983_1313-5979delinsT (GPHN)	XP_016876414.1:n.1313-5983_1313-5979delinsT
XM_017021125.1:c.*526_*530delinsA (ZFYVE26)	XP_016876614.1:n.*526_*530delinsA
NM_152443.3:c.680_684delinsT (RDH12) MANE Select	NP_689656.2:p.Ala227ValfsTer?