Canonical Allele Identifier: CA521020080

Gene: RERE

Linked Data

• dbSNP Id: rs1450144097
• gnomAD v2: 1-8420429-GGGA-G
• gnomAD v4: 1-8360369-GGGA-G
• MyVariant Identifiers: chr1:g.8420430_8420432del (hg19) ; chr1:g.8360370_8360372del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8360375_8360377del , CM000663.2:g.8360375_8360377del	GRCh38
NC_000001.10:g.8420435_8420437del , CM000663.1:g.8420435_8420437del	GRCh37
NC_000001.9:g.8343022_8343024del	NCBI36
NG_047035.1:g.462320_462322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1473_1475del	ENSP00000515651.1:p.Pro492del
ENST00000400908.7:c.3135_3137del MANE Select	ENSP00000383700.2:p.Pro1046del
ENST00000337907.7:c.3135_3137del	ENSP00000338629.3:p.Pro1046del
ENST00000377464.5:c.2331_2333del	ENSP00000366684.1:p.Pro778del
ENST00000400907.6:c.1540+4374_1540+4376del	ENSP00000383699.2:n.1540+4374_1540+4376del
ENST00000400908.6:c.3135_3137del	ENSP00000383700.2:p.Pro1046del
ENST00000476556.5:c.1473_1475del	ENSP00000422246.1:p.Pro492del
ENST00000505225.1:c.307+1088_307+1090del	ENSP00000423451.1:n.307+1088_307+1090del
NM_001042681.1:c.3135_3137del	NP_001036146.1:p.Pro1046del
NM_001042682.1:c.1473_1475del	NP_001036147.1:p.Pro492del
NM_012102.3:c.3135_3137del	NP_036234.3:p.Pro1046del
XM_005263464.1:c.3135_3137del	XP_005263521.1:p.Pro1046del
XM_005263466.1:c.2331_2333del	XP_005263523.1:p.Pro778del
XM_006710653.1:c.3135_3137del	XP_006710716.1:p.Pro1046del
XM_011541510.1:c.3009_3011del	XP_011539812.1:p.Pro1004del
XM_011541511.1:c.3135_3137del	XP_011539813.1:p.Pro1046del
XM_005263464.2:c.3135_3137del	XP_005263521.1:p.Pro1046del
XM_011541510.2:c.3009_3011del	XP_011539812.1:p.Pro1004del
XM_011541511.2:c.3135_3137del	XP_011539813.1:p.Pro1046del
XM_017001358.1:c.3135_3137del	XP_016856847.1:p.Pro1046del
XM_017001359.1:c.3135_3137del	XP_016856848.1:p.Pro1046del
NM_001042681.2:c.3135_3137del MANE Select	NP_001036146.1:p.Pro1046del
NM_001042682.2:c.1473_1475del	NP_001036147.1:p.Pro492del
NM_012102.4:c.3135_3137del	NP_036234.3:p.Pro1046del