Canonical Allele Identifier: CA351626

Gene: REST

Linked Data

• ClinVar Variation Id: 222002
• ClinVar RCV Id: RCV000207462 ; RCV001230375
• dbSNP Id: rs869025310
• gnomAD v2: 4-57777634-CAT-C
• gnomAD v3: 4-56911468-CAT-C
• gnomAD v4: 4-56911468-CAT-C
• MyVariant Identifiers: chr4:g.57777635_57777636del (hg19) ; chr4:g.56911469_56911470del (hg38)
• PubMed: PMID:26551668

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.56911469_56911470del , CM000666.2:g.56911469_56911470del	GRCh38
NC_000004.11:g.57777635_57777636del , CM000666.1:g.57777635_57777636del	GRCh37
NC_000004.10:g.57472392_57472393del	NCBI36
NG_029447.1:g.8594_8595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309042.12:c.831_832del MANE Select	ENSP00000311816.7:p.Cys278TrpfsTer18
ENST00000514063.2:c.831_832del	ENSP00000501649.1:p.Cys278TrpfsTer18
ENST00000611211.2:c.831_832del	ENSP00000479151.2:p.Cys278TrpfsTer18
ENST00000616975.5:c.831_832del	ENSP00000484058.1:p.Cys278TrpfsTer18
ENST00000619101.5:c.831_832del	ENSP00000484836.2:p.Cys278TrpfsTer18
ENST00000638187.2:c.831_832del	ENSP00000492006.2:p.Cys278TrpfsTer18
ENST00000640168.2:c.831_832del	ENSP00000490969.1:p.Cys278TrpfsTer18
ENST00000640343.2:c.831_832del	ENSP00000492813.1:p.Cys278TrpfsTer18
ENST00000675105.1:c.831_832del	ENSP00000502313.1:p.Cys278TrpfsTer18
ENST00000675341.1:c.451+380_451+381del	ENSP00000502488.1:n.451+380_451+381del
ENST00000309042.11:c.831_832del	ENSP00000311816.7:p.Cys278TrpfsTer18
ENST00000514063.1:n.258_259del
ENST00000611211.1:c.831_832del	ENSP00000479151.1:p.Cys278TrpfsTer18
ENST00000612429.4:c.831_832del	ENSP00000484206.1:p.Cys278TrpfsTer18
ENST00000616975.4:c.831_832del	ENSP00000484058.1:p.Cys278TrpfsTer18
ENST00000619101.4:c.831_832del	ENSP00000484836.1:p.Cys278TrpfsTer18
ENST00000622863.4:c.435_436del	ENSP00000481650.1:p.Cys146TrpfsTer18
NM_001193508.1:c.831_832del	NP_001180437.1:p.Cys278TrpfsTer18
NM_005612.4:c.831_832del	NP_005603.3:p.Cys278TrpfsTer18
XM_005265760.2:c.-175+3256_-175+3257del	XP_005265817.1:n.-175+3256_-175+3257del
XM_011534401.1:c.831_832del	XP_011532703.1:p.Cys278TrpfsTer18
NM_001363453.1:c.831_832del	NP_001350382.1:p.Cys278TrpfsTer18
XM_017008527.1:c.831_832del	XP_016864016.1:p.Cys278TrpfsTer18
NM_005612.5:c.831_832del MANE Select	NP_005603.3:p.Cys278TrpfsTer18
NM_001363453.2:c.831_832del	NP_001350382.1:p.Cys278TrpfsTer18