Canonical Allele Identifier: CA1529744738
Gene: RETREG1 HGNC NCBI
RETREG1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1743538273
gnomAD v4: 5-16616945-G-GTGCTCCGGAGGCGCCGGGCTCGCCA
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.16616947_16616971dup , CM000667.2:g.16616947_16616971dup GRCh38
NC_000005.9:g.16617056_16617080dup , CM000667.1:g.16617056_16617080dup GRCh37
NC_000005.8:g.16670056_16670080dup NCBI36
NG_016644.2:g.5040_5064dup , LRG_363:g.5040_5064dup

Transcript Alleles

HGVS Amino-acid change
ENST00000509048.2:n.32_56dup (RETREG1)
ENST00000682229.1:c.2_26dup (RETREG1) ENSP00000507342.1:p.Ala10GlyfsTer?
ENST00000682564.1:c.2_26dup (RETREG1) ENSP00000508099.1:p.Ala10GlyfsTer?
ENST00000682808.1:n.69_93dup (RETREG1)
ENST00000682982.1:n.25_49dup (RETREG1)
ENST00000683045.1:n.28_52dup (RETREG1)
ENST00000683527.1:c.2_26dup (RETREG1) ENSP00000507253.1:p.Ala10GlyfsTer?
ENST00000683973.1:n.28_52dup (RETREG1)
ENST00000684521.1:c.2_26dup (RETREG1) ENSP00000507521.1:p.Ala10GlyfsTer?
ENST00000684695.1:n.20_44dup (RETREG1)
ENST00000306320.10:c.2_26dup (RETREG1) MANE Select ENSP00000304642.9:p.Ala10GlyfsTer?
ENST00000306320.9:c.2_26dup (RETREG1) ENSP00000304642.9:p.Ala10GlyfsTer?
ENST00000509048.1:n.69_93dup (RETREG1)
NM_001034850.2:c.2_26dup , LRG_363t1:c.2_26dup (RETREG1) NP_001030022.1:p.Ala10GlyfsTer?
NR_109946.1:n.561+461_561+485dup (RETREG1-AS1)
XM_011514053.1:c.2_26dup (RETREG1) XP_011512355.1:p.Ala10GlyfsTer?
XM_011514053.3:c.2_26dup (RETREG1) XP_011512355.1:p.Ala10GlyfsTer?
NM_001034850.3:c.2_26dup (RETREG1) MANE Select NP_001030022.1:p.Ala10GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'