Canonical Allele Identifier: CA2625366168

Gene: RDH12 ZFYVE26 GPHN

Linked Data

• gnomAD v4: 14-67729215-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67729216del , CM000676.2:g.67729216del	GRCh38
NC_000014.8:g.68195933del , CM000676.1:g.68195933del	GRCh37
NC_000014.7:g.67265686del	NCBI36
NG_008321.1:g.32331del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.684del (RDH12) MANE Select	ENSP00000449079.1:p.His229ThrfsTer?
ENST00000267502.3:c.684del (RDH12)	ENSP00000267502.3:p.His229ThrfsTer?
ENST00000394455.6:n.3283del (ZFYVE26)
ENST00000551171.5:c.684del (RDH12)	ENSP00000449079.1:p.His229ThrfsTer?
ENST00000552873.1:n.53del (RDH12)
NM_152443.2:c.684del (RDH12)	NP_689656.2:p.His229ThrfsTer?
XM_017020925.2:c.1313-5979del (GPHN)	XP_016876414.1:n.1313-5979del
XM_017021125.1:c.*526del (ZFYVE26)	XP_016876614.1:n.*526del
NM_152443.3:c.684del (RDH12) MANE Select	NP_689656.2:p.His229ThrfsTer?