Canonical Allele Identifier: CA10623952

Gene: RETREG1

Linked Data

• ClinVar Variation Id: 352680
• ClinVar RCV Id: RCV000386546
• dbSNP Id: rs140982908
• gnomAD v2: 5-16474394-G-GA
• gnomAD v3: 5-16474285-G-GA
• gnomAD v4: 5-16474285-G-GA
• MyVariant Identifiers: chr5:g.16474395dupA (hg19) ; chr5:g.16474403_16474404insA (hg19) ; chr5:g.16474394_16474395insA (hg19) ; chr5:g.16474286dupA (hg38) ; chr5:g.16474294_16474295insA (hg38) ; chr5:g.16474285_16474286insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.16474294dup , CM000667.2:g.16474294dup	GRCh38
NC_000005.9:g.16474403dup , CM000667.1:g.16474403dup	GRCh37
NC_000005.8:g.16527403dup	NCBI36
NG_016644.2:g.147724dup , LRG_363:g.147724dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509977.2:n.1597dup
ENST00000510362.6:c.*92+363dup	ENSP00000425089.2:n.*92+363dup
ENST00000682142.1:c.*455dup	ENSP00000506804.1:n.*455dup
ENST00000682229.1:c.*455dup	ENSP00000507342.1:n.*455dup
ENST00000682564.1:c.*455dup	ENSP00000508099.1:n.*455dup
ENST00000682628.1:c.*455dup	ENSP00000507536.1:n.*455dup
ENST00000682982.1:n.2723dup
ENST00000683045.1:n.6493dup
ENST00000683130.1:c.*1195dup	ENSP00000507709.1:n.*1195dup
ENST00000683169.1:n.2448dup
ENST00000683414.1:c.*455dup	ENSP00000508335.1:n.*455dup
ENST00000683527.1:c.*1248dup	ENSP00000507253.1:n.*1248dup
ENST00000684456.1:c.*455dup	ENSP00000508060.1:n.*455dup
ENST00000684521.1:c.*455dup	ENSP00000507521.1:n.*455dup
ENST00000684695.1:n.4219dup
ENST00000306320.10:c.*455dup MANE Select	ENSP00000304642.9:n.*455dup
ENST00000306320.9:c.*455dup	ENSP00000304642.9:n.*455dup
ENST00000399793.6:c.*455dup	ENSP00000382691.2:n.*455dup
ENST00000510362.5:c.745+363dup
NM_001034850.2:c.*455dup , LRG_363t1:c.*455dup	NP_001030022.1:n.*455dup
NM_019000.4:c.*455dup	NP_061873.2:n.*455dup
XM_011514053.1:c.*455dup	XP_011512355.1:n.*455dup
XM_011514054.1:c.*455dup	XP_011512356.1:n.*455dup
XM_011514055.1:c.*455dup	XP_011512357.1:n.*455dup
XM_011514053.3:c.*455dup	XP_011512355.1:n.*455dup
XM_011514054.2:c.*455dup	XP_011512356.1:n.*455dup
XM_011514055.3:c.*455dup	XP_011512357.1:n.*455dup
XM_024446117.1:c.*455dup	XP_024301885.1:n.*455dup
XM_024446118.1:c.*455dup	XP_024301886.1:n.*455dup
NM_001034850.3:c.*455dup MANE Select	NP_001030022.1:n.*455dup
NM_019000.5:c.*455dup	NP_061873.2:n.*455dup