Canonical Allele Identifier: CA998372481

Gene: RERE

Linked Data

• dbSNP Id: rs1639402284
• gnomAD v3: 1-8699497-GATTA-G
• gnomAD v4: 1-8699497-GATTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8699502_8699505del , CM000663.2:g.8699502_8699505del	GRCh38
NC_000001.10:g.8759561_8759564del , CM000663.1:g.8759561_8759564del	GRCh37
NC_000001.9:g.8682148_8682151del	NCBI36
NG_047035.1:g.123191_123194del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704050.1:c.-145+25059_-145+25062del	ENSP00000515653.1:n.-145+25059_-145+25062...
ENST00000400908.7:c.-144-43060_-144-43057del MANE Select	ENSP00000383700.2:n.-144-43060_-144-43057...
ENST00000656437.1:c.-144-43060_-144-43057del	ENSP00000499322.1:n.-144-43060_-144-43057...
ENST00000659924.1:c.-144-43060_-144-43057del	ENSP00000499704.1:n.-144-43060_-144-43057...
ENST00000337907.7:c.-144-43060_-144-43057del	ENSP00000338629.3:n.-144-43060_-144-43057...
ENST00000400908.6:c.-144-43060_-144-43057del	ENSP00000383700.2:n.-144-43060_-144-43057...
ENST00000468247.1:c.-145+3554_-145+3557del	ENSP00000465271.1:n.-145+3554_-145+3557de...
ENST00000480342.5:n.409-43060_409-43057del
NM_001042681.1:c.-144-43060_-144-43057del	NP_001036146.1:n.-144-43060_-144-43057del...
NM_012102.3:c.-144-43060_-144-43057del	NP_036234.3:n.-144-43060_-144-43057del
XM_005263464.1:c.-145+3554_-145+3557del	XP_005263521.1:n.-145+3554_-145+3557del
XM_006710653.1:c.-144-43060_-144-43057del	XP_006710716.1:n.-144-43060_-144-43057del...
XM_011541510.1:c.-144-43060_-144-43057del	XP_011539812.1:n.-144-43060_-144-43057del...
XM_011541511.1:c.-144-43060_-144-43057del	XP_011539813.1:n.-144-43060_-144-43057del...
XM_005263464.2:c.-145+3554_-145+3557del	XP_005263521.1:n.-145+3554_-145+3557del
XM_011541510.2:c.-144-43060_-144-43057del	XP_011539812.1:n.-144-43060_-144-43057del...
XM_011541511.2:c.-144-43060_-144-43057del	XP_011539813.1:n.-144-43060_-144-43057del...
XM_017001358.1:c.-144-43060_-144-43057del	XP_016856847.1:n.-144-43060_-144-43057del...
XM_017001359.1:c.-145+37382_-145+37385del	XP_016856848.1:n.-145+37382_-145+37385del...
NM_001042681.2:c.-144-43060_-144-43057del MANE Select	NP_001036146.1:n.-144-43060_-144-43057del...
NM_012102.4:c.-144-43060_-144-43057del	NP_036234.3:n.-144-43060_-144-43057del