Canonical Allele Identifier: CA916081467

Gene: RETREG1 RETREG1-AS1

Linked Data

• ClinVar Variation Id: 847333
• ClinVar RCV Id: RCV001050859
• dbSNP Id: rs1743541144

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.16616958_16616959delinsCT , CM000667.2:g.16616958_16616959delinsCT	GRCh38
NC_000005.9:g.16617067_16617068delinsCT , CM000667.1:g.16617067_16617068delinsCT	GRCh37
NC_000005.8:g.16670067_16670068delinsCT	NCBI36
NG_016644.2:g.5051_5052delinsAG , LRG_363:g.5051_5052delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000509048.2:n.43_44delinsAG (RETREG1)
ENST00000682229.1:c.13_14delinsAG (RETREG1)	ENSP00000507342.1:p.Ala5Arg
ENST00000682564.1:c.13_14delinsAG (RETREG1)	ENSP00000508099.1:p.Ala5Arg
ENST00000682808.1:n.80_81delinsAG (RETREG1)
ENST00000682828.1:n.10_11delinsAG (RETREG1)
ENST00000682982.1:n.36_37delinsAG (RETREG1)
ENST00000683045.1:n.39_40delinsAG (RETREG1)
ENST00000683527.1:c.13_14delinsAG (RETREG1)	ENSP00000507253.1:p.Ala5Arg
ENST00000683973.1:n.39_40delinsAG (RETREG1)
ENST00000684521.1:c.13_14delinsAG (RETREG1)	ENSP00000507521.1:p.Ala5Arg
ENST00000684695.1:n.31_32delinsAG (RETREG1)
ENST00000306320.10:c.13_14delinsAG (RETREG1) MANE Select	ENSP00000304642.9:p.Ala5Arg
ENST00000306320.9:c.13_14delinsAG (RETREG1)	ENSP00000304642.9:p.Ala5Arg
ENST00000509048.1:n.80_81delinsAG (RETREG1)
NM_001034850.2:c.13_14delinsAG , LRG_363t1:c.13_14delinsAG (RETREG1)	NP_001030022.1:p.Ala5Arg
NR_109946.1:n.561+472_561+473delinsCT (RETREG1-AS1)
XM_011514053.1:c.13_14delinsAG (RETREG1)	XP_011512355.1:p.Ala5Arg
XM_011514053.3:c.13_14delinsAG (RETREG1)	XP_011512355.1:p.Ala5Arg
NM_001034850.3:c.13_14delinsAG (RETREG1) MANE Select	NP_001030022.1:p.Ala5Arg