Canonical Allele Identifier: CA2625366175

Gene: RDH12 ZFYVE26 GPHN

Linked Data

• gnomAD v4: 14-67729222-A-AGGCACTGCGTCCGCTCTGAGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67729225_67729226insACTGCGTCCGCTCTGAGCTGGC , CM000676.2:g.67729225_67729226insACTGCGTCCGCTCTGAGCTGGC	GRCh38
NC_000014.8:g.68195942_68195943insACTGCGTCCGCTCTGAGCTGGC , CM000676.1:g.68195942_68195943insACTGCGTCCGCTCTGAGCTGGC	GRCh37
NC_000014.7:g.67265695_67265696insACTGCGTCCGCTCTGAGCTGGC	NCBI36
NG_008321.1:g.32340_32341insACTGCGTCCGCTCTGAGCTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.693_694insACTGCGTCCGCTCTGAGCTGGC (RDH12) MANE Select	ENSP00000449079.1:p.Val232ThrfsTer12
ENST00000267502.3:c.693_694insACTGCGTCCGCTCTGAGCTGGC (RDH12)	ENSP00000267502.3:p.Val232ThrfsTer12
ENST00000394455.6:n.3276_3277insAGCTCAGAGCGGACGCAGTGCC (ZFYVE26)
ENST00000551171.5:c.693_694insACTGCGTCCGCTCTGAGCTGGC (RDH12)	ENSP00000449079.1:p.Val232ThrfsTer12
ENST00000552873.1:n.62_63insACTGCGTCCGCTCTGAGCTGGC (RDH12)
NM_152443.2:c.693_694insACTGCGTCCGCTCTGAGCTGGC (RDH12)	NP_689656.2:p.Val232ThrfsTer12
XM_017020925.2:c.1313-5970_1313-5969insACTGCGTCCGCTCTGAGCTGGC (GPHN)	XP_016876414.1:n.1313-5970_1313-5969insACTGCGTCCGCTCTGAGCTGGC...
XM_017021125.1:c.*519_*520insAGCTCAGAGCGGACGCAGTGCC (ZFYVE26)	XP_016876614.1:n.*519_*520insAGCTCAGAGCGGACGCAGTGCC
NM_152443.3:c.693_694insACTGCGTCCGCTCTGAGCTGGC (RDH12) MANE Select	NP_689656.2:p.Val232ThrfsTer12