Canonical Allele Identifier: CA2643072753

Gene: RERE

Linked Data

• gnomAD v4: 1-8355328-A-AGAGGGCCAGGCTCCTCCCCCTCTGCCTGCTGGGCCCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8355333_8355334insCCAGGCTCCTCCCCCTCTGCCTGCTGGGCCCTGGAGGG , CM000663.2:g.8355333_8355334insCCAGGCTCCTCCCCCTCTGCCTGCTGGGCCCTGGAGGG	GRCh38
NC_000001.10:g.8415393_8415394insCCAGGCTCCTCCCCCTCTGCCTGCTGGGCCCTGGAGGG , CM000663.1:g.8415393_8415394insCCAGGCTCCTCCCCCTCTGCCTGCTGGGCCCTGGAGGG	GRCh37
NC_000001.9:g.8337980_8337981insCCAGGCTCCTCCCCCTCTGCCTGCTGGGCCCTGGAGGG	NCBI36
NG_047035.1:g.467363_467364insCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465125.2:c.3005+90_3005+91insCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTC	ENSP00000515651.1:n.3005+90_3005+91insCAGGGCCCAGCAGGCAGAGGGGG...
ENST00000400908.7:c.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTC MANE Select	ENSP00000383700.2:n.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGG...
ENST00000337907.7:c.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTC	ENSP00000338629.3:n.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGG...
ENST00000377464.5:c.3863+90_3863+91insCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTC	ENSP00000366684.1:n.3863+90_3863+91insCAGGGCCCAGCAGGCAGAGGGGG...
ENST00000400907.6:c.1721+90_1721+91insCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTC	ENSP00000383699.2:n.1721+90_1721+91insCAGGGCCCAGCAGGCAGAGGGGG...
ENST00000400908.6:c.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTC	ENSP00000383700.2:n.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGG...
ENST00000476556.5:c.3005+90_3005+91insCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTC	ENSP00000422246.1:n.3005+90_3005+91insCAGGGCCCAGCAGGCAGAGGGGG...
NM_001042681.1:c.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTC	NP_001036146.1:n.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGGAGG...
NM_001042682.1:c.3005+90_3005+91insCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTC	NP_001036147.1:n.3005+90_3005+91insCAGGGCCCAGCAGGCAGAGGGGGAGG...
NM_012102.3:c.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTC	NP_036234.3:n.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGGAGGAGC...
XM_005263464.1:c.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTC	XP_005263521.1:n.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGGAGG...
XM_005263466.1:c.3863+90_3863+91insCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTC	XP_005263523.1:n.3863+90_3863+91insCAGGGCCCAGCAGGCAGAGGGGGAGG...
XM_006710653.1:c.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTC	XP_006710716.1:n.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGGAGG...
XM_011541510.1:c.4541+90_4541+91insCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTC	XP_011539812.1:n.4541+90_4541+91insCAGGGCCCAGCAGGCAGAGGGGGAGG...
XM_005263464.2:c.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTC	XP_005263521.1:n.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGGAGG...
XM_011541510.2:c.4541+90_4541+91insCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTC	XP_011539812.1:n.4541+90_4541+91insCAGGGCCCAGCAGGCAGAGGGGGAGG...
XM_017001358.1:c.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTC	XP_016856847.1:n.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGGAGG...
XM_017001359.1:c.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTC	XP_016856848.1:n.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGGAGG...
NM_001042681.2:c.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTC MANE Select	NP_001036146.1:n.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGGAGG...
NM_001042682.2:c.3005+90_3005+91insCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTC	NP_001036147.1:n.3005+90_3005+91insCAGGGCCCAGCAGGCAGAGGGGGAGG...
NM_012102.4:c.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGGAGGAGCCTGGCCCTC	NP_036234.3:n.4667+90_4667+91insCAGGGCCCAGCAGGCAGAGGGGGAGGAGC...