Canonical Allele Identifier: CA521002389

Gene: RERE

Linked Data

• dbSNP Id: rs1557489111
• gnomAD v2: 1-8759343-TATCACAGTGAGTAAGTGGTAAACTAAGAATAGAACTCAAACTCAGACAGCCTAACTATTTACCACTACGCTGTA-T
• gnomAD v3: 1-8699284-TATCACAGTGAGTAAGTGGTAAACTAAGAATAGAACTCAAACTCAGACAGCCTAACTATTTACCACTACGCTGTA-T
• gnomAD v4: 1-8699284-TATCACAGTGAGTAAGTGGTAAACTAAGAATAGAACTCAAACTCAGACAGCCTAACTATTTACCACTACGCTGTA-T
• MyVariant Identifiers: chr1:g.8759344_8759417del (hg19) ; chr1:g.8699285_8699358del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.8699285_8699358del , CM000663.2:g.8699285_8699358del	GRCh38
NC_000001.10:g.8759344_8759417del , CM000663.1:g.8759344_8759417del	GRCh37
NC_000001.9:g.8681931_8682004del	NCBI36
NG_047035.1:g.123334_123407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704050.1:c.-145+25202_-145+25275del	ENSP00000515653.1:n.-145+25202_-145+25275del
ENST00000400908.7:c.-144-42917_-144-42844del MANE Select	ENSP00000383700.2:n.-144-42917_-144-42844del
ENST00000656437.1:c.-144-42917_-144-42844del	ENSP00000499322.1:n.-144-42917_-144-42844del
ENST00000659924.1:c.-144-42917_-144-42844del	ENSP00000499704.1:n.-144-42917_-144-42844del
ENST00000337907.7:c.-144-42917_-144-42844del	ENSP00000338629.3:n.-144-42917_-144-42844del
ENST00000400908.6:c.-144-42917_-144-42844del	ENSP00000383700.2:n.-144-42917_-144-42844del
ENST00000468247.1:c.-145+3697_-145+3770del	ENSP00000465271.1:n.-145+3697_-145+3770del
ENST00000480342.5:n.409-42917_409-42844del
NM_001042681.1:c.-144-42917_-144-42844del	NP_001036146.1:n.-144-42917_-144-42844del
NM_012102.3:c.-144-42917_-144-42844del	NP_036234.3:n.-144-42917_-144-42844del
XM_005263464.1:c.-145+3697_-145+3770del	XP_005263521.1:n.-145+3697_-145+3770del
XM_006710653.1:c.-144-42917_-144-42844del	XP_006710716.1:n.-144-42917_-144-42844del
XM_011541510.1:c.-144-42917_-144-42844del	XP_011539812.1:n.-144-42917_-144-42844del
XM_011541511.1:c.-144-42917_-144-42844del	XP_011539813.1:n.-144-42917_-144-42844del
XM_005263464.2:c.-145+3697_-145+3770del	XP_005263521.1:n.-145+3697_-145+3770del
XM_011541510.2:c.-144-42917_-144-42844del	XP_011539812.1:n.-144-42917_-144-42844del
XM_011541511.2:c.-144-42917_-144-42844del	XP_011539813.1:n.-144-42917_-144-42844del
XM_017001358.1:c.-144-42917_-144-42844del	XP_016856847.1:n.-144-42917_-144-42844del
XM_017001359.1:c.-145+37525_-145+37598del	XP_016856848.1:n.-145+37525_-145+37598del
NM_001042681.2:c.-144-42917_-144-42844del MANE Select	NP_001036146.1:n.-144-42917_-144-42844del
NM_012102.4:c.-144-42917_-144-42844del	NP_036234.3:n.-144-42917_-144-42844del