Canonical Allele Identifier: CA2739265889

Gene: REST

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.56931248_56931249delinsTG , CM000666.2:g.56931248_56931249delinsTG	GRCh38
NC_000004.11:g.57797414_57797415delinsTG , CM000666.1:g.57797414_57797415delinsTG	GRCh37
NC_000004.10:g.57492171_57492172delinsTG	NCBI36
NG_029447.1:g.28373_28374delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309042.12:c.2390_2391delinsTG MANE Select	ENSP00000311816.7:p.Pro797Leu
ENST00000514063.2:c.*1417_*1418delinsTG	ENSP00000501649.1:n.*1417_*1418delinsTG
ENST00000611211.2:c.*79-820_*79-819delinsTG	ENSP00000479151.2:n.*79-820_*79-819delinsTG
ENST00000616975.5:c.*1417_*1418delinsTG	ENSP00000484058.1:n.*1417_*1418delinsTG
ENST00000619101.5:c.*1417_*1418delinsTG	ENSP00000484836.2:n.*1417_*1418delinsTG
ENST00000638187.2:c.2306_2307delinsTG	ENSP00000492006.2:p.Pro769Leu
ENST00000640168.2:c.898+19712_898+19713delinsTG	ENSP00000490969.1:n.898+19712_898+19713delinsTG
ENST00000640343.2:c.982+11378_982+11379delinsTG	ENSP00000492813.1:n.982+11378_982+11379delinsTG
ENST00000675105.1:c.2390_2391delinsTG	ENSP00000502313.1:p.Pro797Leu
ENST00000675341.1:c.1943_1944delinsTG	ENSP00000502488.1:p.Pro648Leu
ENST00000309042.11:c.2390_2391delinsTG	ENSP00000311816.7:p.Pro797Leu
ENST00000619101.4:c.2390_2391delinsTG	ENSP00000484836.1:p.Pro797Leu
ENST00000622863.4:c.587-546_587-545delinsTG	ENSP00000481650.1:n.587-546_587-545delinsTG
NM_001193508.1:c.2390_2391delinsTG	NP_001180437.1:p.Pro797Leu
NM_005612.4:c.2390_2391delinsTG	NP_005603.3:p.Pro797Leu
XM_005265760.2:c.1424_1425delinsTG	XP_005265817.1:p.Pro475Leu
XM_011534401.1:c.2390_2391delinsTG	XP_011532703.1:p.Pro797Leu
XM_011534402.1:c.1412_1413delinsTG	XP_011532704.1:p.Pro471Leu
NM_001363453.1:c.2390_2391delinsTG	NP_001350382.1:p.Pro797Leu
XM_017008527.1:c.2306_2307delinsTG	XP_016864016.1:p.Pro769Leu
NM_005612.5:c.2390_2391delinsTG MANE Select	NP_005603.3:p.Pro797Leu
NM_001363453.2:c.2390_2391delinsTG	NP_001350382.1:p.Pro797Leu