Canonical Allele Identifier: CA571109

Gene: RERE

Linked Data

• dbSNP Id: rs1553154744
• ExAC: 1:8419868 G / GCTCCCGCTCCCGCTCCTT
• gnomAD v4: 1-8359808-G-GCTCCCGCTCCCGCTCCTT
• MyVariant Identifiers: chr1:g.8419873_8419874delinsCGCTCCCGCTCCTTCTCCTT (hg19) ; chr1:g.8419868_8419869insCTCCCGCTCCCGCTCCTT (hg19) ; chr1:g.8359808_8359809insCTCCCGCTCCCGCTCCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8359812_8359813insCGCTCCCGCTCCTTCTCC , CM000663.2:g.8359812_8359813insCGCTCCCGCTCCTTCTCC	GRCh38
NC_000001.10:g.8419872_8419873insCGCTCCCGCTCCTTCTCC , CM000663.1:g.8419872_8419873insCGCTCCCGCTCCTTCTCC	GRCh37
NC_000001.9:g.8342459_8342460insCGCTCCCGCTCCTTCTCC	NCBI36
NG_047035.1:g.462883_462884insAAGGAGCGGGAGCGGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.1911_1912insAAGGAGCGGGAGCGGGAG	ENSP00000515651.1:p.Glu637_Arg638insLysGluArgGluArgGlu
ENST00000400908.7:c.3573_3574insAAGGAGCGGGAGCGGGAG MANE Select	ENSP00000383700.2:p.Glu1191_Arg1192insLysGluArgGluArgGlu
ENST00000337907.7:c.3573_3574insAAGGAGCGGGAGCGGGAG	ENSP00000338629.3:p.Glu1191_Arg1192insLysGluArgGluArgGlu
ENST00000377464.5:c.2769_2770insAAGGAGCGGGAGCGGGAG	ENSP00000366684.1:p.Glu923_Arg924insLysGluArgGluArgGlu
ENST00000400907.6:c.1541-4210_1541-4209insAAGGAGCGGGAGCGGGAG	ENSP00000383699.2:n.1541-4210_1541-4209insAAGGAGCGGGAGCGGGAG
ENST00000400908.6:c.3573_3574insAAGGAGCGGGAGCGGGAG	ENSP00000383700.2:p.Glu1191_Arg1192insLysGluArgGluArgGlu
ENST00000476556.5:c.1911_1912insAAGGAGCGGGAGCGGGAG	ENSP00000422246.1:p.Glu637_Arg638insLysGluArgGluArgGlu
ENST00000505225.1:c.307+1651_307+1652insAAGGAGCGGGAGCGGGAG	ENSP00000423451.1:n.307+1651_307+1652insAAGGAGCGGGAGCGGGAG
NM_001042681.1:c.3573_3574insAAGGAGCGGGAGCGGGAG	NP_001036146.1:p.Glu1191_Arg1192insLysGluArgGluArgGlu
NM_001042682.1:c.1911_1912insAAGGAGCGGGAGCGGGAG	NP_001036147.1:p.Glu637_Arg638insLysGluArgGluArgGlu
NM_012102.3:c.3573_3574insAAGGAGCGGGAGCGGGAG	NP_036234.3:p.Glu1191_Arg1192insLysGluArgGluArgGlu
XM_005263464.1:c.3573_3574insAAGGAGCGGGAGCGGGAG	XP_005263521.1:p.Glu1191_Arg1192insLysGluArgGluArgGlu
XM_005263466.1:c.2769_2770insAAGGAGCGGGAGCGGGAG	XP_005263523.1:p.Glu923_Arg924insLysGluArgGluArgGlu
XM_006710653.1:c.3573_3574insAAGGAGCGGGAGCGGGAG	XP_006710716.1:p.Glu1191_Arg1192insLysGluArgGluArgGlu
XM_011541510.1:c.3447_3448insAAGGAGCGGGAGCGGGAG	XP_011539812.1:p.Glu1149_Arg1150insLysGluArgGluArgGlu
XM_011541511.1:c.3395+303_3395+304insAAGGAGCGGGAGCGGGAG	XP_011539813.1:n.3395+303_3395+304insAAGGAGCGGGAGCGGGAG
XM_005263464.2:c.3573_3574insAAGGAGCGGGAGCGGGAG	XP_005263521.1:p.Glu1191_Arg1192insLysGluArgGluArgGlu
XM_011541510.2:c.3447_3448insAAGGAGCGGGAGCGGGAG	XP_011539812.1:p.Glu1149_Arg1150insLysGluArgGluArgGlu
XM_011541511.2:c.3395+303_3395+304insAAGGAGCGGGAGCGGGAG	XP_011539813.1:n.3395+303_3395+304insAAGGAGCGGGAGCGGGAG
XM_017001358.1:c.3573_3574insAAGGAGCGGGAGCGGGAG	XP_016856847.1:p.Glu1191_Arg1192insLysGluArgGluArgGlu
XM_017001359.1:c.3573_3574insAAGGAGCGGGAGCGGGAG	XP_016856848.1:p.Glu1191_Arg1192insLysGluArgGluArgGlu
NM_001042681.2:c.3573_3574insAAGGAGCGGGAGCGGGAG MANE Select	NP_001036146.1:p.Glu1191_Arg1192insLysGluArgGluArgGlu
NM_001042682.2:c.1911_1912insAAGGAGCGGGAGCGGGAG	NP_001036147.1:p.Glu637_Arg638insLysGluArgGluArgGlu
NM_012102.4:c.3573_3574insAAGGAGCGGGAGCGGGAG	NP_036234.3:p.Glu1191_Arg1192insLysGluArgGluArgGlu