Canonical Allele Identifier: CA3210207

Gene: RETREG1

Linked Data

• ClinVar Variation Id: 439686
• ClinVar RCV Id: RCV000506405 ; RCV000702424 ; RCV002461264
• dbSNP Id: rs758081460
• ExAC: 5:16474888 ACTT / A
• gnomAD v2: 5-16474888-ACTT-A
• gnomAD v3: 5-16474779-ACTT-A
• gnomAD v4: 5-16474779-ACTT-A
• MyVariant Identifiers: chr5:g.16474889_16474891del (hg19) ; chr5:g.16474781_16474783del (hg38) ; chr5:g.16474780_16474782del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.16474783_16474785del , CM000667.2:g.16474783_16474785del	GRCh38
NC_000005.9:g.16474892_16474894del , CM000667.1:g.16474892_16474894del	GRCh37
NC_000005.8:g.16527892_16527894del	NCBI36
NG_016644.2:g.147228_147230del , LRG_363:g.147228_147230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509977.2:n.1101_1103del
ENST00000510362.6:c.928_930del	ENSP00000425089.2:p.Lys310del
ENST00000682142.1:c.1150_1152del	ENSP00000506804.1:p.Lys384del
ENST00000682229.1:c.1609_1611del	ENSP00000507342.1:p.Lys537del
ENST00000682564.1:c.1450_1452del	ENSP00000508099.1:p.Lys484del
ENST00000682628.1:c.928_930del	ENSP00000507536.1:p.Lys310del
ENST00000682982.1:n.2227_2229del
ENST00000683045.1:n.5997_5999del
ENST00000683130.1:c.*699_*701del	ENSP00000507709.1:n.*699_*701del
ENST00000683169.1:n.1952_1954del
ENST00000683414.1:c.928_930del	ENSP00000508335.1:p.Lys310del
ENST00000683527.1:c.*752_*754del	ENSP00000507253.1:n.*752_*754del
ENST00000683539.1:c.928_930del	ENSP00000507466.1:p.Lys310del
ENST00000684456.1:c.385_387del	ENSP00000508060.1:p.Lys129del
ENST00000684521.1:c.1315_1317del	ENSP00000507521.1:p.Lys439del
ENST00000684695.1:n.3723_3725del
ENST00000306320.10:c.1453_1455del MANE Select	ENSP00000304642.9:p.Lys485del
ENST00000306320.9:c.1453_1455del	ENSP00000304642.9:p.Lys485del
ENST00000399793.6:c.1030_1032del	ENSP00000382691.2:p.Lys344del
ENST00000510362.5:c.612_614del
NM_001034850.2:c.1453_1455del , LRG_363t1:c.1453_1455del	NP_001030022.1:p.Lys485del
NM_019000.4:c.1030_1032del	NP_061873.2:p.Lys344del
XM_011514053.1:c.1573_1575del	XP_011512355.1:p.Lys525del
XM_011514054.1:c.1150_1152del	XP_011512356.1:p.Lys384del
XM_011514055.1:c.1054_1056del	XP_011512357.1:p.Lys352del
XM_011514053.3:c.1573_1575del	XP_011512355.1:p.Lys525del
XM_011514054.2:c.1150_1152del	XP_011512356.1:p.Lys384del
XM_011514055.3:c.1054_1056del	XP_011512357.1:p.Lys352del
XM_024446117.1:c.928_930del	XP_024301885.1:p.Lys310del
XM_024446118.1:c.928_930del	XP_024301886.1:p.Lys310del
NM_001034850.3:c.1453_1455del MANE Select	NP_001030022.1:p.Lys485del
NM_019000.5:c.1030_1032del	NP_061873.2:p.Lys344del