Canonical Allele Identifier: CA1018736385

Gene: CSTF1

Linked Data

• dbSNP Id: rs1987316516
• gnomAD v3: 20-56392896-C-CGAG
• gnomAD v4: 20-56392896-C-CGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.56392896_56392897insGAG , CM000682.2:g.56392896_56392897insGAG	GRCh38
NC_000020.10:g.54967952_54967953insGAG , CM000682.1:g.54967952_54967953insGAG	GRCh37
NC_000020.9:g.54401359_54401360insGAG	NCBI36
NG_012133.1:g.4399_4400insCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217109.9:c.-33+183_-33+184insGAG MANE Select	ENSP00000217109.4:n.-33+183_-33+184insGAG
ENST00000217109.8:c.-33+183_-33+184insGAG	ENSP00000217109.4:n.-33+183_-33+184insGAG
ENST00000415828.5:c.-33+358_-33+359insGAG	ENSP00000387968.1:n.-33+358_-33+359insGAG
ENST00000428552.1:c.-1+358_-1+359insGAG	ENSP00000405171.1:n.-1+358_-1+359insGAG
ENST00000452950.1:c.-33+81_-33+82insGAG	ENSP00000409035.1:n.-33+81_-33+82insGAG
ENST00000490539.1:c.-33+183_-33+184insGAG	ENSP00000479273.1:n.-33+183_-33+184insGAG
ENST00000493039.5:c.-33+81_-33+82insGAG	ENSP00000477958.1:n.-33+81_-33+82insGAG
ENST00000498689.5:n.168+358_168+359insGAG
ENST00000613138.1:n.192+183_192+184insGAG
NM_001033521.1:c.-33+358_-33+359insGAG	NP_001028693.1:n.-33+358_-33+359insGAG
NM_001033522.1:c.-33+81_-33+82insGAG	NP_001028694.1:n.-33+81_-33+82insGAG
NM_001324.2:c.-33+183_-33+184insGAG	NP_001315.1:n.-33+183_-33+184insGAG
XM_011528600.1:c.-33+157_-33+158insGAG	XP_011526902.1:n.-33+157_-33+158insGAG
NM_001033522.2:c.-33+81_-33+82insGAG	NP_001028694.1:n.-33+81_-33+82insGAG
NM_001324.3:c.-33+183_-33+184insGAG MANE Select	NP_001315.1:n.-33+183_-33+184insGAG
NM_001033521.2:c.-33+358_-33+359insGAG	NP_001028693.1:n.-33+358_-33+359insGAG